Canonical Allele Identifier: CA7296827

Gene: GALC

Linked Data

• ClinVar Variation Id: 2163543
• ClinVar RCV Id: RCV003092374
• dbSNP Id: rs768745262
• ExAC: 14:88401092 A / G
• gnomAD v2: 14-88401092-A-G
• gnomAD v4: 14-87934748-A-G
• MyVariant Identifiers: chr14:g.88401092A>G (hg19) ; chr14:g.87934748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934748A>G , CM000676.2:g.87934748A>G	GRCh38
NC_000014.8:g.88401092A>G , CM000676.1:g.88401092A>G	GRCh37
NC_000014.7:g.87470845A>G	NCBI36
NG_011853.2:g.63816T>C
NG_011853.3:g.63816T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2042T>C MANE Select	ENSP00000261304.2:p.Val681Ala
ENST00000261304.6:c.2042T>C	ENSP00000261304.2:p.Val681Ala
ENST00000393568.8:c.1973T>C	ENSP00000377198.4:p.Val658Ala
ENST00000393569.6:c.1964T>C	ENSP00000377199.2:p.Val655Ala
ENST00000544807.6:c.1744-749T>C	ENSP00000437513.2:n.1744-749T>C
ENST00000555000.5:c.1279-749T>C	ENSP00000450472.1:n.1279-749T>C
NM_000153.3:c.2042T>C	NP_000144.2:p.Val681Ala
NM_001201401.1:c.1973T>C	NP_001188330.1:p.Val658Ala
NM_001201402.1:c.1964T>C	NP_001188331.1:p.Val655Ala
XM_011536618.1:c.1874T>C	XP_011534920.1:p.Val625Ala
XM_011536618.2:c.1874T>C	XP_011534920.1:p.Val625Ala
NM_000153.4:c.2042T>C MANE Select	NP_000144.2:p.Val681Ala
NM_001201401.2:c.1973T>C	NP_001188330.1:p.Val658Ala
NM_001201402.2:c.1964T>C	NP_001188331.1:p.Val655Ala