Canonical Allele Identifier: CA390745089

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401089T>A (hg19) ; chr14:g.87934745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934745T>A , CM000676.2:g.87934745T>A	GRCh38
NC_000014.8:g.88401089T>A , CM000676.1:g.88401089T>A	GRCh37
NC_000014.7:g.87470842T>A	NCBI36
NG_011853.2:g.63819A>T
NG_011853.3:g.63819A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2045A>T MANE Select	ENSP00000261304.2:p.Glu682Val
ENST00000261304.6:c.2045A>T	ENSP00000261304.2:p.Glu682Val
ENST00000393568.8:c.1976A>T	ENSP00000377198.4:p.Glu659Val
ENST00000393569.6:c.1967A>T	ENSP00000377199.2:p.Glu656Val
ENST00000544807.6:c.1744-746A>T	ENSP00000437513.2:n.1744-746A>T
ENST00000555000.5:c.1279-746A>T	ENSP00000450472.1:n.1279-746A>T
NM_000153.3:c.2045A>T	NP_000144.2:p.Glu682Val
NM_001201401.1:c.1976A>T	NP_001188330.1:p.Glu659Val
NM_001201402.1:c.1967A>T	NP_001188331.1:p.Glu656Val
XM_011536618.1:c.1877A>T	XP_011534920.1:p.Glu626Val
XM_011536618.2:c.1877A>T	XP_011534920.1:p.Glu626Val
NM_000153.4:c.2045A>T MANE Select	NP_000144.2:p.Glu682Val
NM_001201401.2:c.1976A>T	NP_001188330.1:p.Glu659Val
NM_001201402.2:c.1967A>T	NP_001188331.1:p.Glu656Val