Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617868A= , CM000673.2:g.6617868A=	GRCh38
NC_000011.9:g.6639099A= , CM000673.1:g.6639099A=	GRCh37
NC_000011.8:g.6595675A=	NCBI36
NG_008653.1:g.6594T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-92T=	ENSP00000507321.1:n.116-92T=
ENST00000299427.12:c.230-92T= MANE Select	ENSP00000299427.6:n.230-92T=
ENST00000428886.7:n.318-92T=
ENST00000436873.7:c.34-92T=
ENST00000524788.2:n.1150T=
ENST00000524903.2:n.1266T=
ENST00000528571.6:c.90-92T=	ENSP00000434647.1:n.90-92T=
ENST00000530040.2:n.259-92T=
ENST00000533371.6:c.-500-92T=	ENSP00000437066.1:n.-500-92T=
ENST00000534644.6:n.231-92T=
ENST00000642892.1:c.-447-92T=	ENSP00000494165.1:n.-447-92T=
ENST00000643439.1:c.90-92T=	ENSP00000495849.1:n.90-92T=
ENST00000643479.1:n.259-92T=
ENST00000643516.1:c.117-92T=
ENST00000644151.1:n.1430T=
ENST00000644218.1:c.230-92T=	ENSP00000493574.1:n.230-92T=
ENST00000644683.1:c.230-92T=	ENSP00000494085.1:n.230-92T=
ENST00000644810.1:c.230-715T=	ENSP00000495895.1:n.230-715T=
ENST00000644831.1:n.259-92T=
ENST00000644933.1:c.-500-92T=	ENSP00000496133.1:n.-500-92T=
ENST00000645020.1:n.1166T=
ENST00000645285.1:c.-500-92T=	ENSP00000495058.1:n.-500-92T=
ENST00000645331.1:n.252-92T=
ENST00000645620.1:c.-442-92T=	ENSP00000493657.1:n.-442-92T=
ENST00000646777.1:n.259-92T=
ENST00000647016.1:n.471T=
ENST00000647152.1:c.-500-92T=	ENSP00000495893.1:n.-500-92T=
ENST00000647209.1:c.*99-92T=	ENSP00000495558.1:n.*99-92T=
ENST00000647346.1:n.1158T=
ENST00000299427.10:c.230-92T=	ENSP00000299427.6:n.230-92T=
ENST00000428886.6:n.252-92T=
ENST00000436873.6:c.230-92T=	ENSP00000398136.2:n.230-92T=
ENST00000528571.5:c.90-92T=	ENSP00000434647.1:n.90-92T=
ENST00000528917.1:n.531-92T=
ENST00000530040.1:n.342-92T=
ENST00000533371.5:c.-500-92T=	ENSP00000437066.1:n.-500-92T=
ENST00000534644.5:n.215-92T=
ENST00000611494.4:c.230-92T=	ENSP00000484546.1:n.230-92T=
NM_000391.3:c.230-92T=	NP_000382.3:n.230-92T=
NM_000391.4:c.230-92T= MANE Select	NP_000382.3:n.230-92T=