Canonical Allele Identifier: CA390749239

Gene: GALC

Linked Data

• ClinVar Variation Id: 1067314
• ClinVar RCV Id: RCV001378544
• dbSNP Id: rs2140016050
• MyVariant Identifiers: chr14:g.88442701C>T (hg19) ; chr14:g.87976357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976357C>T , CM000676.2:g.87976357C>T	GRCh38
NC_000014.8:g.88442701C>T , CM000676.1:g.88442701C>T	GRCh37
NC_000014.7:g.87512454C>T	NCBI36
NG_011853.2:g.22207G>A
NG_011853.3:g.22207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+1G>A MANE Select	ENSP00000261304.2:n.752+1G>A
ENST00000261304.6:c.752+1G>A	ENSP00000261304.2:n.752+1G>A
ENST00000393568.8:c.683+1G>A	ENSP00000377198.4:n.683+1G>A
ENST00000393569.6:c.674+1G>A	ENSP00000377199.2:n.674+1G>A
ENST00000474294.6:n.742+1G>A
ENST00000477716.3:n.507+1G>A
ENST00000544807.6:c.584+1G>A	ENSP00000437513.2:n.584+1G>A
ENST00000555000.5:c.119+1G>A	ENSP00000450472.1:n.119+1G>A
ENST00000557316.5:c.*150+1G>A	ENSP00000452314.1:n.*150+1G>A
ENST00000622264.4:c.742+1G>A
NM_000153.3:c.752+1G>A	NP_000144.2:n.752+1G>A
NM_001201401.1:c.683+1G>A	NP_001188330.1:n.683+1G>A
NM_001201402.1:c.674+1G>A	NP_001188331.1:n.674+1G>A
XM_011536618.1:c.584+1G>A	XP_011534920.1:n.584+1G>A
XM_011536618.2:c.584+1G>A	XP_011534920.1:n.584+1G>A
NM_000153.4:c.752+1G>A MANE Select	NP_000144.2:n.752+1G>A
NM_001201401.2:c.683+1G>A	NP_001188330.1:n.683+1G>A
NM_001201402.2:c.674+1G>A	NP_001188331.1:n.674+1G>A