Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964605A>C , CM000672.2:g.110964605A>C	GRCh38
NC_000010.10:g.112724363A>C , CM000672.1:g.112724363A>C	GRCh37
NC_000010.9:g.112714353A>C	NCBI36
NG_028922.1:g.50063A>C , LRG_753:g.50063A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.247A>C	ENSP00000265277.5:p.Lys83Gln
ENST00000451838.2:c.-242-35810A>C	ENSP00000408275.2:n.-242-35810A>C
ENST00000480155.2:n.483A>C
ENST00000685059.1:c.247A>C	ENSP00000510210.1:p.Lys83Gln
ENST00000685613.1:c.247A>C	ENSP00000510564.1:p.Lys83Gln
ENST00000687592.1:n.546A>C
ENST00000688928.1:c.247A>C	ENSP00000509273.1:p.Lys83Gln
ENST00000689118.1:c.247A>C	ENSP00000510554.1:p.Lys83Gln
ENST00000689300.1:c.247A>C	ENSP00000510639.1:p.Lys83Gln
ENST00000689997.1:c.-380-21023A>C	ENSP00000510700.1:n.-380-21023A>C
ENST00000691151.1:n.539A>C
ENST00000691369.1:c.247A>C	ENSP00000509754.1:p.Lys83Gln
ENST00000691441.1:c.247A>C	ENSP00000509686.1:p.Lys83Gln
ENST00000691903.1:c.247A>C	ENSP00000510314.1:p.Lys83Gln
ENST00000692776.1:c.247A>C	ENSP00000508524.1:p.Lys83Gln
ENST00000369452.9:c.247A>C MANE Select	ENSP00000358464.5:p.Lys83Gln
ENST00000265277.9:c.247A>C	ENSP00000265277.5:p.Lys83Gln
ENST00000369452.8:c.247A>C	ENSP00000358464.4:p.Lys83Gln
ENST00000489390.1:n.56-35810A>C
ENST00000489783.1:n.625A>C
NM_001269039.1:c.247A>C	NP_001255968.1:p.Lys83Gln
NM_007373.3:c.247A>C , LRG_753t1:c.247A>C	NP_031399.2:p.Lys83Gln
XM_011540216.1:c.-380-21023A>C	XP_011538518.1:n.-380-21023A>C
NM_001269039.2:c.247A>C	NP_001255968.1:p.Lys83Gln
NM_001324336.1:c.247A>C	NP_001311265.1:p.Lys83Gln
NM_001324337.1:c.247A>C	NP_001311266.1:p.Lys83Gln
NR_136749.1:n.116-21023A>C
NM_007373.4:c.247A>C MANE Select	NP_031399.2:p.Lys83Gln
NM_001269039.3:c.247A>C	NP_001255968.1:p.Lys83Gln
NM_001324336.2:c.247A>C	NP_001311265.1:p.Lys83Gln
NM_001324337.2:c.247A>C	NP_001311266.1:p.Lys83Gln
NR_136749.2:n.55-21023A>C

Linked Data

Genomic Alleles

Transcript Alleles