Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617220C= , CM000673.2:g.6617220C=	GRCh38
NC_000011.9:g.6638451C= , CM000673.1:g.6638451C=	GRCh37
NC_000011.8:g.6595027C=	NCBI36
NG_008653.1:g.7242G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-67G=	ENSP00000507321.1:n.395-67G=
ENST00000299427.12:c.509-67G= MANE Select	ENSP00000299427.6:n.509-67G=
ENST00000428886.7:n.677G=
ENST00000436873.7:c.312+81G=
ENST00000524788.2:n.1601G=
ENST00000524903.2:n.1717G=
ENST00000528571.6:c.*329G=	ENSP00000434647.1:n.*329G=
ENST00000528807.2:n.165-67G=
ENST00000530040.2:n.479+139G=
ENST00000533371.6:c.-221-67G=	ENSP00000437066.1:n.-221-67G=
ENST00000534644.6:n.457-67G=
ENST00000642892.1:c.-221-67G=	ENSP00000494165.1:n.-221-67G=
ENST00000643439.1:c.*249-67G=	ENSP00000495849.1:n.*249-67G=
ENST00000643479.1:n.538-67G=
ENST00000643516.1:c.395+81G=
ENST00000644151.1:n.1881G=
ENST00000644218.1:c.509-67G=	ENSP00000493574.1:n.509-67G=
ENST00000644683.1:c.451-67G=	ENSP00000494085.1:n.451-67G=
ENST00000644810.1:c.230-67G=	ENSP00000495895.1:n.230-67G=
ENST00000644831.1:n.618G=
ENST00000644933.1:c.-221-67G=	ENSP00000496133.1:n.-221-67G=
ENST00000645020.1:n.1617G=
ENST00000645285.1:c.-221-67G=	ENSP00000495058.1:n.-221-67G=
ENST00000645331.1:n.808G=
ENST00000645620.1:c.-221-67G=	ENSP00000493657.1:n.-221-67G=
ENST00000646777.1:n.618G=
ENST00000647016.1:n.922G=
ENST00000647152.1:c.-221-67G=	ENSP00000495893.1:n.-221-67G=
ENST00000647209.1:c.*378-67G=	ENSP00000495558.1:n.*378-67G=
ENST00000647346.1:n.1529-67G=
ENST00000299427.10:c.509-67G=	ENSP00000299427.6:n.509-67G=
ENST00000428886.6:n.611G=
ENST00000436873.6:c.450+139G=	ENSP00000398136.2:n.450+139G=
ENST00000524788.1:n.142G=
ENST00000528571.5:c.*249-67G=	ENSP00000434647.1:n.*249-67G=
ENST00000533371.5:c.-221-67G=	ENSP00000437066.1:n.-221-67G=
ENST00000534644.5:n.494-67G=
ENST00000611494.4:c.509-67G=	ENSP00000484546.1:n.509-67G=
NM_000391.3:c.509-67G=	NP_000382.3:n.509-67G=
NM_000391.4:c.509-67G= MANE Select	NP_000382.3:n.509-67G=