Canonical Allele Identifier: CA2153381802
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976465A= , CM000676.2:g.87976465A= GRCh38
NC_000014.8:g.88442809A= , CM000676.1:g.88442809A= GRCh37
NC_000014.7:g.87512562A= NCBI36
NG_011853.2:g.22099T=
NG_011853.3:g.22099T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.645T= MANE Select ENSP00000261304.2:p.Tyr215=
ENST00000261304.6:c.645T= ENSP00000261304.2:p.Tyr215=
ENST00000393568.8:c.576T= ENSP00000377198.4:p.Tyr192=
ENST00000393569.6:c.567T= ENSP00000377199.2:p.Tyr189=
ENST00000474294.6:n.635T=
ENST00000477716.3:n.400T=
ENST00000544807.6:c.477T= ENSP00000437513.2:p.Tyr159=
ENST00000554916.5:n.524T=
ENST00000555000.5:c.12T= ENSP00000450472.1:p.Tyr4=
ENST00000557316.5:c.*43T= ENSP00000452314.1:n.*43T=
ENST00000622264.4:c.635T=
NM_000153.3:c.645T= NP_000144.2:p.Tyr215=
NM_001201401.1:c.576T= NP_001188330.1:p.Tyr192=
NM_001201402.1:c.567T= NP_001188331.1:p.Tyr189=
XM_011536618.1:c.477T= XP_011534920.1:p.Tyr159=
XM_011536618.2:c.477T= XP_011534920.1:p.Tyr159=
NM_000153.4:c.645T= MANE Select NP_000144.2:p.Tyr215=
NM_001201401.2:c.576T= NP_001188330.1:p.Tyr192=
NM_001201402.2:c.567T= NP_001188331.1:p.Tyr189=