Canonical Allele Identifier: CA234058

Gene: GALC

Linked Data

• ClinVar Variation Id: 167119
• ClinVar RCV Id: RCV000153296 ; RCV000174662
• dbSNP Id: rs200378205
• ExAC: 14:88411975 C / T
• gnomAD v2: 14-88411975-C-T
• gnomAD v3: 14-87945631-C-T
• gnomAD v4: 14-87945631-C-T
• COSMIC: COSM958390 ; COSM4873512
• MyVariant Identifiers: chr14:g.88411975C>T (hg19) ; chr14:g.87945631C>T (hg38)
• PubMed: PMID:10234611 ; PMID:16607461 ; PMID:23891399 ; PMID:26795590 ; PMID:27126738

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945631C>T , CM000676.2:g.87945631C>T	GRCh38
NC_000014.8:g.88411975C>T , CM000676.1:g.88411975C>T	GRCh37
NC_000014.7:g.87481728C>T	NCBI36
NG_011853.2:g.52933G>A
NG_011853.3:g.52933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1592G>A MANE Select	ENSP00000261304.2:p.Arg531His
ENST00000261304.6:c.1592G>A	ENSP00000261304.2:p.Arg531His
ENST00000393568.8:c.1523G>A	ENSP00000377198.4:p.Arg508His
ENST00000393569.6:c.1514G>A	ENSP00000377199.2:p.Arg505His
ENST00000544807.6:c.1424G>A	ENSP00000437513.2:p.Arg475His
ENST00000555000.5:c.959G>A	ENSP00000450472.1:p.Arg320His
ENST00000555179.1:c.206+2097G>A
ENST00000557316.5:c.*990G>A	ENSP00000452314.1:n.*990G>A
NM_000153.3:c.1592G>A	NP_000144.2:p.Arg531His
NM_001201401.1:c.1523G>A	NP_001188330.1:p.Arg508His
NM_001201402.1:c.1514G>A	NP_001188331.1:p.Arg505His
XM_011536618.1:c.1424G>A	XP_011534920.1:p.Arg475His
XM_011536618.2:c.1424G>A	XP_011534920.1:p.Arg475His
NM_000153.4:c.1592G>A MANE Select	NP_000144.2:p.Arg531His
NM_001201401.2:c.1523G>A	NP_001188330.1:p.Arg508His
NM_001201402.2:c.1514G>A	NP_001188331.1:p.Arg505His