Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978425C= , CM000664.2:g.120978425C=	GRCh38
NC_000002.11:g.121736001C= , CM000664.1:g.121736001C=	GRCh37
NC_000002.10:g.121452471C=	NCBI36
NG_009030.1:g.186135C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1318-9C= MANE Select	ENSP00000354586.5:n.1318-9C=
ENST00000452319.6:c.1369-9C=	ENSP00000390436.1:n.1369-9C=
ENST00000314490.15:c.382-9C=	ENSP00000312694.12:n.382-9C=
ENST00000341310.10:c.*417-9C=	ENSP00000344473.6:n.*417-9C=
ENST00000361492.8:c.1369-9C=	ENSP00000354586.4:n.1369-9C=
ENST00000435313.6:n.1343-9C=
ENST00000437950.5:c.*468-9C=	ENSP00000415773.1:n.*468-9C=
ENST00000438299.5:c.*468-9C=	ENSP00000400593.1:n.*468-9C=
ENST00000445186.5:c.*468-9C=	ENSP00000397488.1:n.*468-9C=
ENST00000452319.5:c.1369-9C=	ENSP00000390436.1:n.1369-9C=
ENST00000452692.5:c.*417-9C=	ENSP00000403715.1:n.*417-9C=
NM_005270.4:c.1369-9C=	NP_005261.2:n.1369-9C=
XM_006712422.1:c.1318-9C=	XP_006712485.1:n.1318-9C=
XM_011510969.1:c.1351-9C=	XP_011509271.1:n.1351-9C=
XM_011510970.1:c.1228-9C=	XP_011509272.1:n.1228-9C=
XM_011510971.1:c.1174-9C=	XP_011509273.1:n.1174-9C=
XM_011510972.1:c.1174-9C=	XP_011509274.1:n.1174-9C=
XM_011510973.1:c.994-9C=	XP_011509275.1:n.994-9C=
XM_011510974.1:c.943-9C=	XP_011509276.1:n.943-9C=
XM_006712422.3:c.1318-9C=	XP_006712485.1:n.1318-9C=
XM_011510969.2:c.1621-9C=	XP_011509271.2:n.1621-9C=
XM_011510970.2:c.1228-9C=	XP_011509272.1:n.1228-9C=
XM_011510971.2:c.1174-9C=	XP_011509273.1:n.1174-9C=
XM_011510972.2:c.1270-9C=	XP_011509274.2:n.1270-9C=
XM_011510973.2:c.994-9C=	XP_011509275.1:n.994-9C=
XM_011510974.2:c.943-9C=	XP_011509276.1:n.943-9C=
XM_017003818.1:c.1570-9C=	XP_016859307.1:n.1570-9C=
XM_024452794.1:c.1369-9C=	XP_024308562.1:n.1369-9C=
XM_024452795.1:c.1369-9C=	XP_024308563.1:n.1369-9C=
NM_001371271.1:c.1369-9C=	NP_001358200.1:n.1369-9C=
NM_001374353.1:c.1318-9C= MANE Select	NP_001361282.1:n.1318-9C=
NM_001374354.1:c.943-9C=	NP_001361283.1:n.943-9C=
NM_005270.5:c.1369-9C=	NP_005261.2:n.1369-9C=