Canonical Allele Identifier: CA3206973014
Community Standard Title: NM_000153.4(GALC):c.1851T= (p.Tyr617=)
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939965A= , CM000676.2:g.87939965A= GRCh38
NC_000014.8:g.88406309A= , CM000676.1:g.88406309A= GRCh37
NC_000014.7:g.87476062A= NCBI36
NG_011853.2:g.58599T=
NG_011853.3:g.58599T=

Transcript Alleles

HGVS Amino-acid Change
NM_000153.4:c.1851T= MANE Select NP_000144.2:p.Tyr617=
ENST00000261304.7:c.1851T= MANE Select ENSP00000261304.2:p.Tyr617=
NM_000153.3:c.1851T= NP_000144.2:p.Tyr617=
NM_001201401.1:c.1782T= NP_001188330.1:p.Tyr594=
NM_001201401.2:c.1782T= NP_001188330.1:p.Tyr594=
NM_001201402.1:c.1773T= NP_001188331.1:p.Tyr591=
NM_001201402.2:c.1773T= NP_001188331.1:p.Tyr591=
ENST00000261304.6:c.1851T= ENSP00000261304.2:p.Tyr617=
ENST00000393568.8:c.1782T= ENSP00000377198.4:p.Tyr594=
ENST00000393569.6:c.1773T= ENSP00000377199.2:p.Tyr591=
ENST00000544807.6:c.1683T= ENSP00000437513.2:p.Tyr561=
ENST00000555000.5:c.1218T= ENSP00000450472.1:p.Tyr406=
ENST00000555179.1:c.387T=
XM_011536618.1:c.1683T= XP_011534920.1:p.Tyr561=
XM_011536618.2:c.1683T= XP_011534920.1:p.Tyr561=