Canonical Allele Identifier: CA2153381751

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976361A= , CM000676.2:g.87976361A=	GRCh38
NC_000014.8:g.88442705A= , CM000676.1:g.88442705A=	GRCh37
NC_000014.7:g.87512458A=	NCBI36
NG_011853.2:g.22203T=
NG_011853.3:g.22203T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.749T= MANE Select	ENSP00000261304.2:p.Ile250=
ENST00000261304.6:c.749T=	ENSP00000261304.2:p.Ile250=
ENST00000393568.8:c.680T=	ENSP00000377198.4:p.Ile227=
ENST00000393569.6:c.671T=	ENSP00000377199.2:p.Ile224=
ENST00000474294.6:n.739T=
ENST00000477716.3:n.504T=
ENST00000544807.6:c.581T=	ENSP00000437513.2:p.Ile194=
ENST00000554916.5:n.628T=
ENST00000555000.5:c.116T=	ENSP00000450472.1:p.Ile39=
ENST00000557316.5:c.*147T=	ENSP00000452314.1:n.*147T=
ENST00000622264.4:c.739T=
NM_000153.3:c.749T=	NP_000144.2:p.Ile250=
NM_001201401.1:c.680T=	NP_001188330.1:p.Ile227=
NM_001201402.1:c.671T=	NP_001188331.1:p.Ile224=
XM_011536618.1:c.581T=	XP_011534920.1:p.Ile194=
XM_011536618.2:c.581T=	XP_011534920.1:p.Ile194=
NM_000153.4:c.749T= MANE Select	NP_000144.2:p.Ile250=
NM_001201401.2:c.680T=	NP_001188330.1:p.Ile227=
NM_001201402.2:c.671T=	NP_001188331.1:p.Ile224=