Canonical Allele Identifier: CA264685596

Gene: GALC

Linked Data

• ClinVar Variation Id: 2147564
• ClinVar RCV Id: RCV003060961
• dbSNP Id: rs1056412903
• MyVariant Identifiers: chr14:g.88414101G>A (hg19) ; chr14:g.87947757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947757G>A , CM000676.2:g.87947757G>A	GRCh38
NC_000014.8:g.88414101G>A , CM000676.1:g.88414101G>A	GRCh37
NC_000014.7:g.87483854G>A	NCBI36
NG_011853.2:g.50807C>T
NG_011853.3:g.50807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1460C>T MANE Select	ENSP00000261304.2:p.Pro487Leu
ENST00000261304.6:c.1460C>T	ENSP00000261304.2:p.Pro487Leu
ENST00000393568.8:c.1391C>T	ENSP00000377198.4:p.Pro464Leu
ENST00000393569.6:c.1382C>T	ENSP00000377199.2:p.Pro461Leu
ENST00000544807.6:c.1292C>T	ENSP00000437513.2:p.Pro431Leu
ENST00000555000.5:c.827C>T	ENSP00000450472.1:p.Pro276Leu
ENST00000555179.1:c.177C>T
ENST00000557316.5:c.*858C>T	ENSP00000452314.1:n.*858C>T
NM_000153.3:c.1460C>T	NP_000144.2:p.Pro487Leu
NM_001201401.1:c.1391C>T	NP_001188330.1:p.Pro464Leu
NM_001201402.1:c.1382C>T	NP_001188331.1:p.Pro461Leu
XM_011536618.1:c.1292C>T	XP_011534920.1:p.Pro431Leu
XM_011536618.2:c.1292C>T	XP_011534920.1:p.Pro431Leu
NM_000153.4:c.1460C>T MANE Select	NP_000144.2:p.Pro487Leu
NM_001201401.2:c.1391C>T	NP_001188330.1:p.Pro464Leu
NM_001201402.2:c.1382C>T	NP_001188331.1:p.Pro461Leu