Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617523C= , CM000673.2:g.6617523C=	GRCh38
NC_000011.9:g.6638754C= , CM000673.1:g.6638754C=	GRCh37
NC_000011.8:g.6595330C=	NCBI36
NG_008653.1:g.6939G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.267-95G=	ENSP00000507321.1:n.267-95G=
ENST00000299427.12:c.381-95G= MANE Select	ENSP00000299427.6:n.381-95G=
ENST00000428886.7:n.469-95G=
ENST00000436873.7:c.185-95G=
ENST00000524788.2:n.1393-95G=
ENST00000524903.2:n.1509-95G=
ENST00000528571.6:c.*121-95G=	ENSP00000434647.1:n.*121-95G=
ENST00000530040.2:n.410-95G=
ENST00000533371.6:c.-349-95G=	ENSP00000437066.1:n.-349-95G=
ENST00000534644.6:n.382-95G=
ENST00000642892.1:c.-296-95G=	ENSP00000494165.1:n.-296-95G=
ENST00000643439.1:c.*121-95G=	ENSP00000495849.1:n.*121-95G=
ENST00000643479.1:n.410-95G=
ENST00000643516.1:c.268-95G=
ENST00000644151.1:n.1673-95G=
ENST00000644218.1:c.381-95G=	ENSP00000493574.1:n.381-95G=
ENST00000644683.1:c.381-95G=	ENSP00000494085.1:n.381-95G=
ENST00000644810.1:c.230-370G=	ENSP00000495895.1:n.230-370G=
ENST00000644831.1:n.410-95G=
ENST00000644933.1:c.-349-95G=	ENSP00000496133.1:n.-349-95G=
ENST00000645020.1:n.1409-95G=
ENST00000645285.1:c.-349-95G=	ENSP00000495058.1:n.-349-95G=
ENST00000645331.1:n.505G=
ENST00000645620.1:c.-291-95G=	ENSP00000493657.1:n.-291-95G=
ENST00000646777.1:n.410-95G=
ENST00000647016.1:n.714-95G=
ENST00000647152.1:c.-349-95G=	ENSP00000495893.1:n.-349-95G=
ENST00000647209.1:c.*250-95G=	ENSP00000495558.1:n.*250-95G=
ENST00000647346.1:n.1401-95G=
ENST00000299427.10:c.381-95G=	ENSP00000299427.6:n.381-95G=
ENST00000428886.6:n.403-95G=
ENST00000436873.6:c.381-95G=	ENSP00000398136.2:n.381-95G=
ENST00000528571.5:c.*121-95G=	ENSP00000434647.1:n.*121-95G=
ENST00000530040.1:n.493-95G=
ENST00000533371.5:c.-349-95G=	ENSP00000437066.1:n.-349-95G=
ENST00000534644.5:n.366-95G=
ENST00000611494.4:c.381-95G=	ENSP00000484546.1:n.381-95G=
NM_000391.3:c.381-95G=	NP_000382.3:n.381-95G=
NM_000391.4:c.381-95G= MANE Select	NP_000382.3:n.381-95G=