Canonical Allele Identifier: CA390746381
Gene: GALC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947736A>C , CM000676.2:g.87947736A>C GRCh38
NC_000014.8:g.88414080A>C , CM000676.1:g.88414080A>C GRCh37
NC_000014.7:g.87483833A>C NCBI36
NG_011853.2:g.50828T>G
NG_011853.3:g.50828T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1481T>G MANE Select ENSP00000261304.2:p.Phe494Cys
ENST00000261304.6:c.1481T>G ENSP00000261304.2:p.Phe494Cys
ENST00000393568.8:c.1412T>G ENSP00000377198.4:p.Phe471Cys
ENST00000393569.6:c.1403T>G ENSP00000377199.2:p.Phe468Cys
ENST00000544807.6:c.1313T>G ENSP00000437513.2:p.Phe438Cys
ENST00000555000.5:c.848T>G ENSP00000450472.1:p.Phe283Cys
ENST00000555179.1:c.198T>G
ENST00000557316.5:c.*879T>G ENSP00000452314.1:n.*879T>G
NM_000153.3:c.1481T>G NP_000144.2:p.Phe494Cys
NM_001201401.1:c.1412T>G NP_001188330.1:p.Phe471Cys
NM_001201402.1:c.1403T>G NP_001188331.1:p.Phe468Cys
XM_011536618.1:c.1313T>G XP_011534920.1:p.Phe438Cys
XM_011536618.2:c.1313T>G XP_011534920.1:p.Phe438Cys
NM_000153.4:c.1481T>G MANE Select NP_000144.2:p.Phe494Cys
NM_001201401.2:c.1412T>G NP_001188330.1:p.Phe471Cys
NM_001201402.2:c.1403T>G NP_001188331.1:p.Phe468Cys