Canonical Allele Identifier: CA390746368

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414075C>T (hg19) ; chr14:g.87947731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947731C>T , CM000676.2:g.87947731C>T	GRCh38
NC_000014.8:g.88414075C>T , CM000676.1:g.88414075C>T	GRCh37
NC_000014.7:g.87483828C>T	NCBI36
NG_011853.2:g.50833G>A
NG_011853.3:g.50833G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1486G>A MANE Select	ENSP00000261304.2:p.Val496Ile
ENST00000261304.6:c.1486G>A	ENSP00000261304.2:p.Val496Ile
ENST00000393568.8:c.1417G>A	ENSP00000377198.4:p.Val473Ile
ENST00000393569.6:c.1408G>A	ENSP00000377199.2:p.Val470Ile
ENST00000544807.6:c.1318G>A	ENSP00000437513.2:p.Val440Ile
ENST00000555000.5:c.853G>A	ENSP00000450472.1:p.Val285Ile
ENST00000555179.1:c.203G>A
ENST00000557316.5:c.*884G>A	ENSP00000452314.1:n.*884G>A
NM_000153.3:c.1486G>A	NP_000144.2:p.Val496Ile
NM_001201401.1:c.1417G>A	NP_001188330.1:p.Val473Ile
NM_001201402.1:c.1408G>A	NP_001188331.1:p.Val470Ile
XM_011536618.1:c.1318G>A	XP_011534920.1:p.Val440Ile
XM_011536618.2:c.1318G>A	XP_011534920.1:p.Val440Ile
NM_000153.4:c.1486G>A MANE Select	NP_000144.2:p.Val496Ile
NM_001201401.2:c.1417G>A	NP_001188330.1:p.Val473Ile
NM_001201402.2:c.1408G>A	NP_001188331.1:p.Val470Ile