Canonical Allele Identifier: CA390749272

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442708A>T (hg19) ; chr14:g.87976364A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976364A>T , CM000676.2:g.87976364A>T	GRCh38
NC_000014.8:g.88442708A>T , CM000676.1:g.88442708A>T	GRCh37
NC_000014.7:g.87512461A>T	NCBI36
NG_011853.2:g.22200T>A
NG_011853.3:g.22200T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.746T>A MANE Select	ENSP00000261304.2:p.Val249Asp
ENST00000261304.6:c.746T>A	ENSP00000261304.2:p.Val249Asp
ENST00000393568.8:c.677T>A	ENSP00000377198.4:p.Val226Asp
ENST00000393569.6:c.668T>A	ENSP00000377199.2:p.Val223Asp
ENST00000474294.6:n.736T>A
ENST00000477716.3:n.501T>A
ENST00000544807.6:c.578T>A	ENSP00000437513.2:p.Val193Asp
ENST00000554916.5:n.625T>A
ENST00000555000.5:c.113T>A	ENSP00000450472.1:p.Val38Asp
ENST00000557316.5:c.*144T>A	ENSP00000452314.1:n.*144T>A
ENST00000622264.4:c.736T>A
NM_000153.3:c.746T>A	NP_000144.2:p.Val249Asp
NM_001201401.1:c.677T>A	NP_001188330.1:p.Val226Asp
NM_001201402.1:c.668T>A	NP_001188331.1:p.Val223Asp
XM_011536618.1:c.578T>A	XP_011534920.1:p.Val193Asp
XM_011536618.2:c.578T>A	XP_011534920.1:p.Val193Asp
NM_000153.4:c.746T>A MANE Select	NP_000144.2:p.Val249Asp
NM_001201401.2:c.677T>A	NP_001188330.1:p.Val226Asp
NM_001201402.2:c.668T>A	NP_001188331.1:p.Val223Asp