Canonical Allele Identifier: CA16041691
Gene: GALC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370366
ClinVar RCV Id: RCV000409588
dbSNP Id: rs1057516433

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939965del , CM000676.2:g.87939965del GRCh38
NC_000014.7:g.87476062del NCBI36
NC_000014.8:g.88406309del , CM000676.1:g.88406309del GRCh37
NG_011853.2:g.58599del

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.6:c.1851del ENSP00000261304.2:p.Tyr617Ter
ENST00000393568.8:c.1782del ENSP00000377198.4:p.Tyr594Ter
ENST00000393569.6:c.1773del ENSP00000377199.2:p.Tyr591Ter
ENST00000544807.6:c.1683del ENSP00000437513.2:p.Tyr561Ter
ENST00000555000.5:c.1218del ENSP00000450472.1:p.Tyr406Ter
ENST00000555179.1:n.387del
NM_000153.3:c.1851del VV NP_000144.2:p.Tyr617Ter
NM_001201401.1:c.1782del VV NP_001188330.1:p.Tyr594Ter
NM_001201402.1:c.1773del VV NP_001188331.1:p.Tyr591Ter
XM_011536618.1:c.1683del XP_011534920.1:p.Tyr561Ter
XM_011536618.2:c.1683del