Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.24821194A>G , CM000666.2:g.24821194A>G	GRCh38
NC_000004.11:g.24822816A>G , CM000666.1:g.24822816A>G	GRCh37
NC_000004.10:g.24431914A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635206.3:c.1028-107T>C MANE Select	ENSP00000488929.2:n.1028-107T>C
ENST00000635206.2:c.1043-107T>C	ENSP00000488929.1:n.1043-107T>C
ENST00000389609.8:c.1043-1219T>C	ENSP00000374260.4:n.1043-1219T>C
ENST00000502801.1:c.373-12375T>C	ENSP00000427529.1:n.373-12375T>C
ENST00000504487.5:c.1043-1219T>C	ENSP00000425715.1:n.1043-1219T>C
ENST00000508236.1:n.550-107T>C
ENST00000635206.1:c.1043-107T>C	ENSP00000488929.1:n.1043-107T>C
NM_001130726.2:c.1043-1219T>C	NP_001124198.1:n.1043-1219T>C
NM_173463.4:c.1043-1219T>C	NP_775734.2:n.1043-1219T>C
XM_005248210.2:c.1043-107T>C	XP_005248267.1:n.1043-107T>C
XM_011513906.1:c.1043-107T>C	XP_011512208.1:n.1043-107T>C
XM_011513907.1:c.878-107T>C	XP_011512209.1:n.878-107T>C
XM_011513908.1:c.878-107T>C	XP_011512210.1:n.878-107T>C
NM_001130726.3:c.1043-1219T>C	NP_001124198.1:n.1043-1219T>C
NM_001330643.1:c.1043-107T>C	NP_001317572.1:n.1043-107T>C
NM_001330644.1:c.878-1219T>C	NP_001317573.1:n.878-1219T>C
NM_173463.5:c.1043-1219T>C	NP_775734.2:n.1043-1219T>C
XM_011513906.3:c.1043-107T>C	XP_011512208.1:n.1043-107T>C
XM_011513907.3:c.878-107T>C	XP_011512209.1:n.878-107T>C
XM_011513908.2:c.878-107T>C	XP_011512210.1:n.878-107T>C
XM_017008827.2:c.1043-1219T>C	XP_016864316.1:n.1043-1219T>C
NM_001130726.4:c.1043-1219T>C	NP_001124198.1:n.1043-1219T>C
NM_001330643.2:c.1043-107T>C	NP_001317572.1:n.1043-107T>C
NM_001330644.2:c.878-1219T>C	NP_001317573.1:n.878-1219T>C
NM_173463.6:c.1043-1219T>C	NP_775734.2:n.1043-1219T>C
NM_001130726.5:c.1028-1219T>C	NP_001124198.2:n.1028-1219T>C
NM_001395273.1:c.1028-107T>C MANE Select	NP_001382202.1:n.1028-107T>C