Canonical Allele Identifier: CA2153346453
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968386C= , CM000676.2:g.87968386C= GRCh38
NC_000014.8:g.88434730C= , CM000676.1:g.88434730C= GRCh37
NC_000014.7:g.87504483C= NCBI36
NG_011853.2:g.30178G=
NG_011853.3:g.30178G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.857G= MANE Select ENSP00000261304.2:p.Gly286=
ENST00000261304.6:c.857G= ENSP00000261304.2:p.Gly286=
ENST00000393568.8:c.788G= ENSP00000377198.4:p.Gly263=
ENST00000393569.6:c.779G= ENSP00000377199.2:p.Gly260=
ENST00000474294.6:n.847G=
ENST00000544807.6:c.689G= ENSP00000437513.2:p.Gly230=
ENST00000555000.5:c.224G= ENSP00000450472.1:p.Gly75=
ENST00000557316.5:c.*255G= ENSP00000452314.1:n.*255G=
ENST00000622264.4:c.847G=
NM_000153.3:c.857G= NP_000144.2:p.Gly286=
NM_001201401.1:c.788G= NP_001188330.1:p.Gly263=
NM_001201402.1:c.779G= NP_001188331.1:p.Gly260=
XM_011536618.1:c.689G= XP_011534920.1:p.Gly230=
XM_011536618.2:c.689G= XP_011534920.1:p.Gly230=
NM_000153.4:c.857G= MANE Select NP_000144.2:p.Gly286=
NM_001201401.2:c.788G= NP_001188330.1:p.Gly263=
NM_001201402.2:c.779G= NP_001188331.1:p.Gly260=