Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.60785375A= , CM000665.2:g.60785375A=	GRCh38
NC_000003.11:g.60771108A= , CM000665.1:g.60771108A=	GRCh37
NC_000003.10:g.60746148A=	NCBI36
NG_007551.1:g.471026T=
NG_007551.2:g.471085T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492590.6:c.-18+36544T= MANE Select	ENSP00000418582.1:n.-18+36544T=
ENST00000468189.5:c.-18+36544T=	ENSP00000417480.1:n.-18+36544T=
ENST00000476844.5:c.-18+36544T=	ENSP00000417557.1:n.-18+36544T=
ENST00000488467.5:c.-57-19812T=	ENSP00000418596.1:n.-57-19812T=
ENST00000490952.1:n.550+36544T=
ENST00000492590.5:c.-18+36544T=	ENSP00000418582.1:n.-18+36544T=
NM_001166243.1:c.-18+36544T=	NP_001159715.1:n.-18+36544T=
NM_002012.2:c.-18+36544T=	NP_002003.1:n.-18+36544T=
XM_011533481.1:c.-90+36544T=	XP_011531783.1:n.-90+36544T=
XM_011533482.1:c.-143-18277T=	XP_011531784.1:n.-143-18277T=
XM_011533483.1:c.-215-18277T=	XP_011531785.1:n.-215-18277T=
XM_011533484.1:c.-57-19812T=	XP_011531786.1:n.-57-19812T=
NM_001166243.2:c.-18+36544T=	NP_001159715.1:n.-18+36544T=
NM_001320899.1:c.-18+36544T=	NP_001307828.1:n.-18+36544T=
NM_001320900.1:c.-18+36544T=	NP_001307829.1:n.-18+36544T=
NM_001354589.1:c.-18+36544T=	NP_001341518.1:n.-18+36544T=
NM_001354590.1:c.-18+36544T=	NP_001341519.1:n.-18+36544T=
NM_002012.3:c.-18+36544T=	NP_002003.1:n.-18+36544T=
NR_148921.1:n.356+36544T=
XM_017005880.2:c.-18+36544T=	XP_016861369.1:n.-18+36544T=
XM_017005881.2:c.-18+36544T=	XP_016861370.1:n.-18+36544T=
XM_017005882.2:c.-18+36544T=	XP_016861371.1:n.-18+36544T=
XM_017005883.1:c.-18+36544T=	XP_016861372.1:n.-18+36544T=
XM_017005884.1:c.-18+36544T=	XP_016861373.1:n.-18+36544T=
NM_002012.4:c.-18+36544T= MANE Select	NP_002003.1:n.-18+36544T=
NM_001166243.3:c.-18+36544T=	NP_001159715.1:n.-18+36544T=
NM_001320899.2:c.-18+36544T=	NP_001307828.1:n.-18+36544T=
NM_001320900.2:c.-18+36544T=	NP_001307829.1:n.-18+36544T=
NM_001354589.2:c.-18+36544T=	NP_001341518.1:n.-18+36544T=
NM_001354590.2:c.-18+36544T=	NP_001341519.1:n.-18+36544T=
NR_148921.2:n.347+36544T=