Canonical Allele Identifier: CA7297139

Gene: GALC

Linked Data

• ClinVar Variation Id: 2193212
• ClinVar RCV Id: RCV002607870
• dbSNP Id: rs780665279
• ExAC: 14:88429730 T / C
• gnomAD v2: 14-88429730-T-C
• gnomAD v3: 14-87963386-T-C
• gnomAD v4: 14-87963386-T-C
• MyVariant Identifiers: chr14:g.88429730T>C (hg19) ; chr14:g.87963386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963386T>C , CM000676.2:g.87963386T>C	GRCh38
NC_000014.8:g.88429730T>C , CM000676.1:g.88429730T>C	GRCh37
NC_000014.7:g.87499483T>C	NCBI36
NG_011853.2:g.35178A>G
NG_011853.3:g.35178A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1159A>G MANE Select	ENSP00000261304.2:p.Met387Val
ENST00000261304.6:c.1159A>G	ENSP00000261304.2:p.Met387Val
ENST00000393568.8:c.1090A>G	ENSP00000377198.4:p.Met364Val
ENST00000393569.6:c.1081A>G	ENSP00000377199.2:p.Met361Val
ENST00000474294.6:n.1149A>G
ENST00000544807.6:c.991A>G	ENSP00000437513.2:p.Met331Val
ENST00000555000.5:c.526A>G	ENSP00000450472.1:p.Met176Val
ENST00000557316.5:c.*557A>G	ENSP00000452314.1:n.*557A>G
ENST00000557520.1:n.245A>G
ENST00000622264.4:c.1149A>G
NM_000153.3:c.1159A>G	NP_000144.2:p.Met387Val
NM_001201401.1:c.1090A>G	NP_001188330.1:p.Met364Val
NM_001201402.1:c.1081A>G	NP_001188331.1:p.Met361Val
XM_011536618.1:c.991A>G	XP_011534920.1:p.Met331Val
XM_011536618.2:c.991A>G	XP_011534920.1:p.Met331Val
NM_000153.4:c.1159A>G MANE Select	NP_000144.2:p.Met387Val
NM_001201401.2:c.1090A>G	NP_001188330.1:p.Met364Val
NM_001201402.2:c.1081A>G	NP_001188331.1:p.Met361Val