Canonical Allele Identifier: CA390745094

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401090C>T (hg19) ; chr14:g.87934746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934746C>T , CM000676.2:g.87934746C>T	GRCh38
NC_000014.8:g.88401090C>T , CM000676.1:g.88401090C>T	GRCh37
NC_000014.7:g.87470843C>T	NCBI36
NG_011853.2:g.63818G>A
NG_011853.3:g.63818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2044G>A MANE Select	ENSP00000261304.2:p.Glu682Lys
ENST00000261304.6:c.2044G>A	ENSP00000261304.2:p.Glu682Lys
ENST00000393568.8:c.1975G>A	ENSP00000377198.4:p.Glu659Lys
ENST00000393569.6:c.1966G>A	ENSP00000377199.2:p.Glu656Lys
ENST00000544807.6:c.1744-747G>A	ENSP00000437513.2:n.1744-747G>A
ENST00000555000.5:c.1279-747G>A	ENSP00000450472.1:n.1279-747G>A
NM_000153.3:c.2044G>A	NP_000144.2:p.Glu682Lys
NM_001201401.1:c.1975G>A	NP_001188330.1:p.Glu659Lys
NM_001201402.1:c.1966G>A	NP_001188331.1:p.Glu656Lys
XM_011536618.1:c.1876G>A	XP_011534920.1:p.Glu626Lys
XM_011536618.2:c.1876G>A	XP_011534920.1:p.Glu626Lys
NM_000153.4:c.2044G>A MANE Select	NP_000144.2:p.Glu682Lys
NM_001201401.2:c.1975G>A	NP_001188330.1:p.Glu659Lys
NM_001201402.2:c.1966G>A	NP_001188331.1:p.Glu656Lys