Canonical Allele Identifier: CA7297284

Gene: GALC

Linked Data

• dbSNP Id: rs376441238
• ExAC: 14:88442817 G / C
• MyVariant Identifiers: chr14:g.88442817G>C (hg19) ; chr14:g.87976473G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976473G>C , CM000676.2:g.87976473G>C	GRCh38
NC_000014.8:g.88442817G>C , CM000676.1:g.88442817G>C	GRCh37
NC_000014.7:g.87512570G>C	NCBI36
NG_011853.2:g.22091C>G
NG_011853.3:g.22091C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.637C>G MANE Select	ENSP00000261304.2:p.Leu213Val
ENST00000261304.6:c.637C>G	ENSP00000261304.2:p.Leu213Val
ENST00000393568.8:c.568C>G	ENSP00000377198.4:p.Leu190Val
ENST00000393569.6:c.559C>G	ENSP00000377199.2:p.Leu187Val
ENST00000474294.6:n.627C>G
ENST00000477716.3:n.392C>G
ENST00000544807.6:c.469C>G	ENSP00000437513.2:p.Leu157Val
ENST00000554916.5:n.516C>G
ENST00000555000.5:c.4C>G	ENSP00000450472.1:p.Leu2Val
ENST00000557316.5:c.*35C>G	ENSP00000452314.1:n.*35C>G
ENST00000622264.4:c.627C>G
NM_000153.3:c.637C>G	NP_000144.2:p.Leu213Val
NM_001201401.1:c.568C>G	NP_001188330.1:p.Leu190Val
NM_001201402.1:c.559C>G	NP_001188331.1:p.Leu187Val
XM_011536618.1:c.469C>G	XP_011534920.1:p.Leu157Val
XM_011536618.2:c.469C>G	XP_011534920.1:p.Leu157Val
NM_000153.4:c.637C>G MANE Select	NP_000144.2:p.Leu213Val
NM_001201401.2:c.568C>G	NP_001188330.1:p.Leu190Val
NM_001201402.2:c.559C>G	NP_001188331.1:p.Leu187Val