Canonical Allele Identifier: CA2153381790

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976437C= , CM000676.2:g.87976437C=	GRCh38
NC_000014.8:g.88442781C= , CM000676.1:g.88442781C=	GRCh37
NC_000014.7:g.87512534C=	NCBI36
NG_011853.2:g.22127G=
NG_011853.3:g.22127G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.673G= MANE Select	ENSP00000261304.2:p.Ala225=
ENST00000261304.6:c.673G=	ENSP00000261304.2:p.Ala225=
ENST00000393568.8:c.604G=	ENSP00000377198.4:p.Ala202=
ENST00000393569.6:c.595G=	ENSP00000377199.2:p.Ala199=
ENST00000474294.6:n.663G=
ENST00000477716.3:n.428G=
ENST00000544807.6:c.505G=	ENSP00000437513.2:p.Ala169=
ENST00000554916.5:n.552G=
ENST00000555000.5:c.40G=	ENSP00000450472.1:p.Ala14=
ENST00000557316.5:c.*71G=	ENSP00000452314.1:n.*71G=
ENST00000622264.4:c.663G=
NM_000153.3:c.673G=	NP_000144.2:p.Ala225=
NM_001201401.1:c.604G=	NP_001188330.1:p.Ala202=
NM_001201402.1:c.595G=	NP_001188331.1:p.Ala199=
XM_011536618.1:c.505G=	XP_011534920.1:p.Ala169=
XM_011536618.2:c.505G=	XP_011534920.1:p.Ala169=
NM_000153.4:c.673G= MANE Select	NP_000144.2:p.Ala225=
NM_001201401.2:c.604G=	NP_001188330.1:p.Ala202=
NM_001201402.2:c.595G=	NP_001188331.1:p.Ala199=