Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123352464G>A , CM000665.2:g.123352464G>A	GRCh38
NC_000003.11:g.123071311G>A , CM000665.1:g.123071311G>A	GRCh37
NC_000003.10:g.124554001G>A	NCBI36
NG_033882.1:g.101082C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000466617.6:c.-72C>T	ENSP00000420082.2:n.-72C>T
ENST00000470367.2:c.217C>T	ENSP00000514541.1:p.Arg73Trp
ENST00000483566.2:c.-72C>T	ENSP00000420252.2:n.-72C>T
ENST00000699714.1:c.-72C>T	ENSP00000514539.1:n.-72C>T
ENST00000699715.1:c.-72C>T	ENSP00000514540.1:n.-72C>T
ENST00000699716.1:c.-72C>T	ENSP00000514542.1:n.-72C>T
ENST00000699718.1:c.1252C>T	ENSP00000514543.1:p.Arg418Trp
ENST00000462833.6:c.1252C>T MANE Select	ENSP00000419361.1:p.Arg418Trp
ENST00000309879.9:c.202C>T	ENSP00000308685.5:p.Arg68Trp
ENST00000462833.5:c.1252C>T	ENSP00000419361.1:p.Arg418Trp
ENST00000466617.5:c.-72C>T	ENSP00000420082.1:n.-72C>T
ENST00000470367.1:n.547C>T
ENST00000476455.1:c.156C>T	ENSP00000417789.1:p.Arg52=
ENST00000483566.1:c.-72C>T	ENSP00000420252.1:n.-72C>T
ENST00000491190.5:c.151C>T	ENSP00000418537.1:p.Arg51Trp
NM_001199642.1:c.202C>T	NP_001186571.1:p.Arg68Trp
NM_183357.2:c.1252C>T	NP_899200.1:p.Arg418Trp
XM_005247077.2:c.1252C>T	XP_005247134.1:p.Arg418Trp
XM_005247078.1:c.202C>T	XP_005247135.1:p.Arg68Trp
XM_006713483.1:c.151C>T	XP_006713546.1:p.Arg51Trp
XM_006713484.1:c.-72C>T	XP_006713547.1:n.-72C>T
XM_011512358.1:c.1252C>T	XP_011510660.1:p.Arg418Trp
XM_011512359.1:c.253C>T	XP_011510661.1:p.Arg85Trp
XM_011512360.1:c.163C>T	XP_011510662.1:p.Arg55Trp
XM_011512361.1:c.-72C>T	XP_011510663.1:n.-72C>T
XM_005247077.4:c.1252C>T	XP_005247134.1:p.Arg418Trp
XM_011512359.2:c.253C>T	XP_011510661.1:p.Arg85Trp
XM_011512360.3:c.163C>T	XP_011510662.1:p.Arg55Trp
XM_017005638.1:c.154C>T	XP_016861127.1:p.Arg52Trp
XM_017005639.1:c.154C>T	XP_016861128.1:p.Arg52Trp
NM_001378259.1:c.1252C>T	NP_001365188.1:p.Arg418Trp
NM_183357.3:c.1252C>T MANE Select	NP_899200.1:p.Arg418Trp

Linked Data

Genomic Alleles

Transcript Alleles