Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158114982A= , CM000668.2:g.158114982A=	GRCh38
NC_000006.11:g.158536014A= , CM000668.1:g.158536014A=	GRCh37
NC_000006.10:g.158456002A=	NCBI36
NG_032889.1:g.58299T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435180.6:c.714-11T=	ENSP00000391168.2:n.714-11T=
ENST00000607071.6:c.*1222-11T=	ENSP00000475855.1:n.*1222-11T=
ENST00000642244.1:c.1412-11T=	ENSP00000493554.1:n.1412-11T=
ENST00000642903.1:c.1502-11T=	ENSP00000493559.1:n.1502-11T=
ENST00000644972.1:c.1502-11T=	ENSP00000496451.1:n.1502-11T=
ENST00000645077.1:c.*1123-11T=	ENSP00000496113.1:n.*1123-11T=
ENST00000645172.1:c.*1204-11T=	ENSP00000495367.1:n.*1204-11T=
ENST00000646190.1:n.2833-11T=
ENST00000646208.1:c.1238-11T=	ENSP00000493723.1:n.1238-11T=
ENST00000646410.1:c.1373-11T=	ENSP00000494205.1:n.1373-11T=
ENST00000646562.1:c.*1336-11T=	ENSP00000496087.1:n.*1336-11T=
ENST00000647468.2:c.1502-11T= MANE Select	ENSP00000496731.1:n.1502-11T=
ENST00000648111.1:c.*1190-11T=	ENSP00000497275.1:n.*1190-11T=
ENST00000367101.5:c.1546-11T=	ENSP00000356068.1:n.1546-11T=
ENST00000367104.7:c.1502-11T=	ENSP00000356071.3:n.1502-11T=
ENST00000435180.5:c.227-11T=	ENSP00000391168.1:n.227-11T=
ENST00000606965.5:c.*63-11T=	ENSP00000475808.1:n.*63-11T=
ENST00000607071.5:c.*1436-11T=	ENSP00000475855.1:n.*1436-11T=
ENST00000607742.5:c.*2780-11T=	ENSP00000475523.1:n.*2780-11T=
NM_032861.3:c.1502-11T=	NP_116250.3:n.1502-11T=
NR_073096.1:n.1435-11T=
XM_006715586.1:c.1292-11T=	XP_006715649.1:n.1292-11T=
XM_011536196.1:c.1481-11T=	XP_011534498.1:n.1481-11T=
XM_011536197.1:c.1388-11T=	XP_011534499.1:n.1388-11T=
XM_011536198.1:c.1292-11T=	XP_011534500.1:n.1292-11T=
XM_006715586.3:c.1292-11T=	XP_006715649.1:n.1292-11T=
XM_011536196.3:c.1481-11T=	XP_011534498.1:n.1481-11T=
XM_011536198.3:c.1292-11T=	XP_011534500.1:n.1292-11T=
XM_024446573.1:c.1502-11T=	XP_024302341.1:n.1502-11T=
XR_001743697.2:n.1533-11T=
XR_942606.2:n.1584-11T=
NM_032861.4:c.1502-11T= MANE Select	NP_116250.3:n.1502-11T=
NR_073096.2:n.1417-11T=