Canonical Allele Identifier: CA2153385633

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984460G= , CM000676.2:g.87984460G=	GRCh38
NC_000014.8:g.88450804G= , CM000676.1:g.88450804G=	GRCh37
NC_000014.7:g.87520557G=	NCBI36
NG_011853.2:g.14104C=
NG_011853.3:g.14104C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.516C= MANE Select	ENSP00000261304.2:p.Ala172=
ENST00000261304.6:c.516C=	ENSP00000261304.2:p.Ala172=
ENST00000393568.8:c.447C=	ENSP00000377198.4:p.Ala149=
ENST00000393569.6:c.438C=	ENSP00000377199.2:p.Ala146=
ENST00000474294.6:n.506C=
ENST00000544807.6:c.348C=	ENSP00000437513.2:p.Ala116=
ENST00000554372.5:c.*265C=	ENSP00000451884.1:n.*265C=
ENST00000554916.5:n.395C=
ENST00000556261.5:n.217C=
ENST00000556879.5:c.576C=	ENSP00000452208.1:n.576C=
ENST00000557316.5:c.516C=	ENSP00000452314.1:p.Ala172=
ENST00000622264.4:c.506C=
NM_000153.3:c.516C=	NP_000144.2:p.Ala172=
NM_001201401.1:c.447C=	NP_001188330.1:p.Ala149=
NM_001201402.1:c.438C=	NP_001188331.1:p.Ala146=
XM_011536618.1:c.348C=	XP_011534920.1:p.Ala116=
XM_011536618.2:c.348C=	XP_011534920.1:p.Ala116=
NM_000153.4:c.516C= MANE Select	NP_000144.2:p.Ala172=
NM_001201401.2:c.447C=	NP_001188330.1:p.Ala149=
NM_001201402.2:c.438C=	NP_001188331.1:p.Ala146=