Canonical Allele Identifier: CA2153358440

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947384G= , CM000676.2:g.87947384G=	GRCh38
NC_000014.8:g.88413728G= , CM000676.1:g.88413728G=	GRCh37
NC_000014.7:g.87483481G=	NCBI36
NG_011853.2:g.51180C=
NG_011853.3:g.51180C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+344C= MANE Select	ENSP00000261304.2:n.1489+344C=
ENST00000261304.6:c.1489+344C=	ENSP00000261304.2:n.1489+344C=
ENST00000393568.8:c.1420+344C=	ENSP00000377198.4:n.1420+344C=
ENST00000393569.6:c.1411+344C=	ENSP00000377199.2:n.1411+344C=
ENST00000544807.6:c.1321+344C=	ENSP00000437513.2:n.1321+344C=
ENST00000555000.5:c.856+344C=	ENSP00000450472.1:n.856+344C=
ENST00000555179.1:c.206+344C=
ENST00000557316.5:c.*887+344C=	ENSP00000452314.1:n.*887+344C=
NM_000153.3:c.1489+344C=	NP_000144.2:n.1489+344C=
NM_001201401.1:c.1420+344C=	NP_001188330.1:n.1420+344C=
NM_001201402.1:c.1411+344C=	NP_001188331.1:n.1411+344C=
XM_011536618.1:c.1321+344C=	XP_011534920.1:n.1321+344C=
XM_011536618.2:c.1321+344C=	XP_011534920.1:n.1321+344C=
NM_000153.4:c.1489+344C= MANE Select	NP_000144.2:n.1489+344C=
NM_001201401.2:c.1420+344C=	NP_001188330.1:n.1420+344C=
NM_001201402.2:c.1411+344C=	NP_001188331.1:n.1411+344C=