Canonical Allele Identifier: CA390746617

Gene: GALC

Linked Data

• ClinVar Variation Id: 1498109
• ClinVar RCV Id: RCV002019585
• dbSNP Id: rs1195834672
• gnomAD v4: 14-87947847-C-T
• MyVariant Identifiers: chr14:g.88414191C>T (hg19) ; chr14:g.87947847C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947847C>T , CM000676.2:g.87947847C>T	GRCh38
NC_000014.8:g.88414191C>T , CM000676.1:g.88414191C>T	GRCh37
NC_000014.7:g.87483944C>T	NCBI36
NG_011853.2:g.50717G>A
NG_011853.3:g.50717G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1370G>A MANE Select	ENSP00000261304.2:p.Ser457Asn
ENST00000261304.6:c.1370G>A	ENSP00000261304.2:p.Ser457Asn
ENST00000393568.8:c.1301G>A	ENSP00000377198.4:p.Ser434Asn
ENST00000393569.6:c.1292G>A	ENSP00000377199.2:p.Ser431Asn
ENST00000544807.6:c.1202G>A	ENSP00000437513.2:p.Ser401Asn
ENST00000555000.5:c.737G>A	ENSP00000450472.1:p.Ser246Asn
ENST00000555179.1:c.87G>A
ENST00000557316.5:c.*768G>A	ENSP00000452314.1:n.*768G>A
NM_000153.3:c.1370G>A	NP_000144.2:p.Ser457Asn
NM_001201401.1:c.1301G>A	NP_001188330.1:p.Ser434Asn
NM_001201402.1:c.1292G>A	NP_001188331.1:p.Ser431Asn
XM_011536618.1:c.1202G>A	XP_011534920.1:p.Ser401Asn
XM_011536618.2:c.1202G>A	XP_011534920.1:p.Ser401Asn
NM_000153.4:c.1370G>A MANE Select	NP_000144.2:p.Ser457Asn
NM_001201401.2:c.1301G>A	NP_001188330.1:p.Ser434Asn
NM_001201402.2:c.1292G>A	NP_001188331.1:p.Ser431Asn