Canonical Allele Identifier: CA7297025
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 314749
ClinVar RCV Id: RCV000353661
dbSNP Id: rs755193670

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947841T>C , CM000676.2:g.87947841T>C GRCh38
NC_000014.8:g.88414185T>C , CM000676.1:g.88414185T>C GRCh37
NC_000014.7:g.87483938T>C NCBI36
NG_011853.2:g.50723A>G
NG_011853.3:g.50723A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1376A>G MANE Select ENSP00000261304.2:p.His459Arg
ENST00000261304.6:c.1376A>G ENSP00000261304.2:p.His459Arg
ENST00000393568.8:c.1307A>G ENSP00000377198.4:p.His436Arg
ENST00000393569.6:c.1298A>G ENSP00000377199.2:p.His433Arg
ENST00000544807.6:c.1208A>G ENSP00000437513.2:p.His403Arg
ENST00000555000.5:c.743A>G ENSP00000450472.1:p.His248Arg
ENST00000555179.1:n.93A>G
ENST00000557316.5:c.*774A>G ENSP00000452314.1:p.=
NM_000153.3:c.1376A>G NP_000144.2:p.His459Arg
NM_001201401.1:c.1307A>G NP_001188330.1:p.His436Arg
NM_001201402.1:c.1298A>G NP_001188331.1:p.His433Arg
XM_011536618.1:c.1208A>G XP_011534920.1:p.His403Arg
XM_011536618.2:c.1208A>G XP_011534920.1:p.His403Arg
NM_000153.4:c.1376A>G MANE Select NP_000144.2:p.His459Arg
NM_001201401.2:c.1307A>G NP_001188330.1:p.His436Arg
NM_001201402.2:c.1298A>G NP_001188331.1:p.His433Arg