Canonical Allele Identifier: CA390746315
Gene: GALC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945720A>C , CM000676.2:g.87945720A>C GRCh38
NC_000014.8:g.88412064A>C , CM000676.1:g.88412064A>C GRCh37
NC_000014.7:g.87481817A>C NCBI36
NG_011853.2:g.52844T>G
NG_011853.3:g.52844T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1503T>G MANE Select ENSP00000261304.2:p.Phe501Leu
ENST00000261304.6:c.1503T>G ENSP00000261304.2:p.Phe501Leu
ENST00000393568.8:c.1434T>G ENSP00000377198.4:p.Phe478Leu
ENST00000393569.6:c.1425T>G ENSP00000377199.2:p.Phe475Leu
ENST00000544807.6:c.1335T>G ENSP00000437513.2:p.Phe445Leu
ENST00000555000.5:c.870T>G ENSP00000450472.1:p.Phe290Leu
ENST00000555179.1:c.206+2008T>G
ENST00000557316.5:c.*901T>G ENSP00000452314.1:n.*901T>G
NM_000153.3:c.1503T>G NP_000144.2:p.Phe501Leu
NM_001201401.1:c.1434T>G NP_001188330.1:p.Phe478Leu
NM_001201402.1:c.1425T>G NP_001188331.1:p.Phe475Leu
XM_011536618.1:c.1335T>G XP_011534920.1:p.Phe445Leu
XM_011536618.2:c.1335T>G XP_011534920.1:p.Phe445Leu
NM_000153.4:c.1503T>G MANE Select NP_000144.2:p.Phe501Leu
NM_001201401.2:c.1434T>G NP_001188330.1:p.Phe478Leu
NM_001201402.2:c.1425T>G NP_001188331.1:p.Phe475Leu