Canonical Allele Identifier: CA2153346435
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968347C= , CM000676.2:g.87968347C= GRCh38
NC_000014.8:g.88434691C= , CM000676.1:g.88434691C= GRCh37
NC_000014.7:g.87504444C= NCBI36
NG_011853.2:g.30217G=
NG_011853.3:g.30217G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.896G= MANE Select ENSP00000261304.2:p.Gly299=
ENST00000261304.6:c.896G= ENSP00000261304.2:p.Gly299=
ENST00000393568.8:c.827G= ENSP00000377198.4:p.Gly276=
ENST00000393569.6:c.818G= ENSP00000377199.2:p.Gly273=
ENST00000474294.6:n.886G=
ENST00000544807.6:c.728G= ENSP00000437513.2:p.Gly243=
ENST00000555000.5:c.263G= ENSP00000450472.1:p.Gly88=
ENST00000557316.5:c.*294G= ENSP00000452314.1:n.*294G=
ENST00000622264.4:c.886G=
NM_000153.3:c.896G= NP_000144.2:p.Gly299=
NM_001201401.1:c.827G= NP_001188330.1:p.Gly276=
NM_001201402.1:c.818G= NP_001188331.1:p.Gly273=
XM_011536618.1:c.728G= XP_011534920.1:p.Gly243=
XM_011536618.2:c.728G= XP_011534920.1:p.Gly243=
NM_000153.4:c.896G= MANE Select NP_000144.2:p.Gly299=
NM_001201401.2:c.827G= NP_001188330.1:p.Gly276=
NM_001201402.2:c.818G= NP_001188331.1:p.Gly273=