Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108134807T>C , CM000673.2:g.108134807T>C	GRCh38
NC_000011.9:g.108005534T>C , CM000673.1:g.108005534T>C	GRCh37
NC_000011.8:g.107510744T>C	NCBI36
NG_009888.1:g.18277T>C
NG_009888.2:g.23103T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.335-335T>C MANE Select	NP_000010.1:n.335-335T>C
ENST00000265838.9:c.335-335T>C MANE Select	ENSP00000265838.4:n.335-335T>C
NM_000019.3:c.335-335T>C	NP_000010.1:n.335-335T>C
NM_001386677.1:c.335-335T>C	NP_001373606.1:n.335-335T>C
NM_001386678.1:c.120+2853T>C	NP_001373607.1:n.120+2853T>C
NM_001386679.1:c.38-335T>C	NP_001373608.1:n.38-335T>C
NM_001386681.1:c.65-335T>C	NP_001373610.1:n.65-335T>C
NM_001386682.1:c.65-335T>C	NP_001373611.1:n.65-335T>C
NM_001386685.1:c.65-335T>C	NP_001373614.1:n.65-335T>C
NM_001386686.1:c.65-335T>C	NP_001373615.1:n.65-335T>C
NM_001386687.1:c.65-335T>C	NP_001373616.1:n.65-335T>C
NM_001386688.1:c.65-335T>C	NP_001373617.1:n.65-335T>C
NM_001386689.1:c.65-335T>C	NP_001373618.1:n.65-335T>C
NM_001386690.1:c.65-335T>C	NP_001373619.1:n.65-335T>C
NM_001386691.1:c.65-335T>C	NP_001373620.1:n.65-335T>C
NR_170162.1:n.375-335T>C
NR_170163.1:n.468+491T>C
ENST00000265838.8:c.335-335T>C	ENSP00000265838.4:n.335-335T>C
ENST00000299355.10:c.335-335T>C	ENSP00000299355.6:n.335-335T>C
ENST00000527942.5:c.65-335T>C	ENSP00000433568.1:n.65-335T>C
ENST00000528370.1:c.141-335T>C
ENST00000531813.5:c.334+491T>C	ENSP00000435965.1:n.334+491T>C
ENST00000671707.1:n.430-335T>C
ENST00000672008.1:c.314+511T>C	ENSP00000500499.1:n.314+511T>C
ENST00000672031.1:c.335-335T>C	ENSP00000500463.1:n.335-335T>C
ENST00000672284.1:c.65-335T>C	ENSP00000500444.1:n.65-335T>C
ENST00000672354.1:c.335-335T>C	ENSP00000500490.1:n.335-335T>C
ENST00000672367.1:c.73-4091T>C	ENSP00000500209.1:n.73-4091T>C
ENST00000672580.1:c.335-335T>C	ENSP00000500366.1:n.335-335T>C
ENST00000672907.1:c.120+2853T>C	ENSP00000500928.1:n.120+2853T>C
ENST00000673000.1:n.423-335T>C
ENST00000673531.1:c.65-335T>C	ENSP00000500163.1:n.65-335T>C
XM_006718834.2:c.65-335T>C	XP_006718897.1:n.65-335T>C
XM_006718835.2:c.65-335T>C	XP_006718898.1:n.65-335T>C
XM_006718835.3:c.65-335T>C	XP_006718898.1:n.65-335T>C
XM_017017681.1:c.65-335T>C	XP_016873170.1:n.65-335T>C
XM_017017682.2:c.57+491T>C	XP_016873171.1:n.57+491T>C
XM_017017683.2:c.57+491T>C	XP_016873172.1:n.57+491T>C
XM_024448511.1:c.65-335T>C	XP_024304279.1:n.65-335T>C
XM_024448512.1:c.65-335T>C	XP_024304280.1:n.65-335T>C
XM_024448513.1:c.65-335T>C	XP_024304281.1:n.65-335T>C
XM_024448514.1:c.65-335T>C	XP_024304282.1:n.65-335T>C
XM_024448515.1:c.65-335T>C	XP_024304283.1:n.65-335T>C