Canonical Allele Identifier: CA487354441

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401079G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934735G>T , CM000676.2:g.87934735G>T	GRCh38
NC_000014.8:g.88401079G>T , CM000676.1:g.88401079G>T	GRCh37
NC_000014.7:g.87470832G>T	NCBI36
NG_011853.2:g.63829C>A
NG_011853.3:g.63829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2055C>A MANE Select	ENSP00000261304.2:p.Arg685=
ENST00000261304.6:c.2055C>A	ENSP00000261304.2:p.Arg685=
ENST00000393568.8:c.1986C>A	ENSP00000377198.4:p.Arg662=
ENST00000393569.6:c.1977C>A	ENSP00000377199.2:p.Arg659=
ENST00000544807.6:c.1744-736C>A	ENSP00000437513.2:n.1744-736C>A
ENST00000555000.5:c.1279-736C>A	ENSP00000450472.1:n.1279-736C>A
NM_000153.3:c.2055C>A	NP_000144.2:p.Arg685=
NM_001201401.1:c.1986C>A	NP_001188330.1:p.Arg662=
NM_001201402.1:c.1977C>A	NP_001188331.1:p.Arg659=
XM_011536618.1:c.1887C>A	XP_011534920.1:p.Arg629=
XM_011536618.2:c.1887C>A	XP_011534920.1:p.Arg629=
NM_000153.4:c.2055C>A MANE Select	NP_000144.2:p.Arg685=
NM_001201401.2:c.1986C>A	NP_001188330.1:p.Arg662=
NM_001201402.2:c.1977C>A	NP_001188331.1:p.Arg659=