Canonical Allele Identifier: CA390749627

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442792A>T (hg19) ; chr14:g.87976448A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976448A>T , CM000676.2:g.87976448A>T	GRCh38
NC_000014.8:g.88442792A>T , CM000676.1:g.88442792A>T	GRCh37
NC_000014.7:g.87512545A>T	NCBI36
NG_011853.2:g.22116T>A
NG_011853.3:g.22116T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.662T>A MANE Select	ENSP00000261304.2:p.Val221Glu
ENST00000261304.6:c.662T>A	ENSP00000261304.2:p.Val221Glu
ENST00000393568.8:c.593T>A	ENSP00000377198.4:p.Val198Glu
ENST00000393569.6:c.584T>A	ENSP00000377199.2:p.Val195Glu
ENST00000474294.6:n.652T>A
ENST00000477716.3:n.417T>A
ENST00000544807.6:c.494T>A	ENSP00000437513.2:p.Val165Glu
ENST00000554916.5:n.541T>A
ENST00000555000.5:c.29T>A	ENSP00000450472.1:p.Val10Glu
ENST00000557316.5:c.*60T>A	ENSP00000452314.1:n.*60T>A
ENST00000622264.4:c.652T>A
NM_000153.3:c.662T>A	NP_000144.2:p.Val221Glu
NM_001201401.1:c.593T>A	NP_001188330.1:p.Val198Glu
NM_001201402.1:c.584T>A	NP_001188331.1:p.Val195Glu
XM_011536618.1:c.494T>A	XP_011534920.1:p.Val165Glu
XM_011536618.2:c.494T>A	XP_011534920.1:p.Val165Glu
NM_000153.4:c.662T>A MANE Select	NP_000144.2:p.Val221Glu
NM_001201401.2:c.593T>A	NP_001188330.1:p.Val198Glu
NM_001201402.2:c.584T>A	NP_001188331.1:p.Val195Glu