Canonical Allele Identifier: CA2153353399

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941536C= , CM000676.2:g.87941536C=	GRCh38
NC_000014.8:g.88407880C= , CM000676.1:g.88407880C=	GRCh37
NC_000014.7:g.87477633C=	NCBI36
NG_011853.2:g.57028G=
NG_011853.3:g.57028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1693G= MANE Select	ENSP00000261304.2:p.Asp565=
ENST00000261304.6:c.1693G=	ENSP00000261304.2:p.Asp565=
ENST00000393568.8:c.1624G=	ENSP00000377198.4:p.Asp542=
ENST00000393569.6:c.1615G=	ENSP00000377199.2:p.Asp539=
ENST00000544807.6:c.1525G=	ENSP00000437513.2:p.Asp509=
ENST00000555000.5:c.1060G=	ENSP00000450472.1:p.Asp354=
ENST00000555179.1:c.229G=
ENST00000557316.5:c.*1091G=	ENSP00000452314.1:n.*1091G=
NM_000153.3:c.1693G=	NP_000144.2:p.Asp565=
NM_001201401.1:c.1624G=	NP_001188330.1:p.Asp542=
NM_001201402.1:c.1615G=	NP_001188331.1:p.Asp539=
XM_011536618.1:c.1525G=	XP_011534920.1:p.Asp509=
XM_011536618.2:c.1525G=	XP_011534920.1:p.Asp509=
NM_000153.4:c.1693G= MANE Select	NP_000144.2:p.Asp565=
NM_001201401.2:c.1624G=	NP_001188330.1:p.Asp542=
NM_001201402.2:c.1615G=	NP_001188331.1:p.Asp539=