Canonical Allele Identifier: CA390746268
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1484436
ClinVar RCV Id: RCV002005792
dbSNP Id: rs2139951602

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945700G>A , CM000676.2:g.87945700G>A GRCh38
NC_000014.8:g.88412044G>A , CM000676.1:g.88412044G>A GRCh37
NC_000014.7:g.87481797G>A NCBI36
NG_011853.2:g.52864C>T
NG_011853.3:g.52864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1523C>T MANE Select ENSP00000261304.2:p.Ala508Val
ENST00000261304.6:c.1523C>T ENSP00000261304.2:p.Ala508Val
ENST00000393568.8:c.1454C>T ENSP00000377198.4:p.Ala485Val
ENST00000393569.6:c.1445C>T ENSP00000377199.2:p.Ala482Val
ENST00000544807.6:c.1355C>T ENSP00000437513.2:p.Ala452Val
ENST00000555000.5:c.890C>T ENSP00000450472.1:p.Ala297Val
ENST00000555179.1:c.206+2028C>T
ENST00000557316.5:c.*921C>T ENSP00000452314.1:n.*921C>T
NM_000153.3:c.1523C>T NP_000144.2:p.Ala508Val
NM_001201401.1:c.1454C>T NP_001188330.1:p.Ala485Val
NM_001201402.1:c.1445C>T NP_001188331.1:p.Ala482Val
XM_011536618.1:c.1355C>T XP_011534920.1:p.Ala452Val
XM_011536618.2:c.1355C>T XP_011534920.1:p.Ala452Val
NM_000153.4:c.1523C>T MANE Select NP_000144.2:p.Ala508Val
NM_001201401.2:c.1454C>T NP_001188330.1:p.Ala485Val
NM_001201402.2:c.1445C>T NP_001188331.1:p.Ala482Val