Canonical Allele Identifier: CA2153356936
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945688C= , CM000676.2:g.87945688C= GRCh38
NC_000014.8:g.88412032C= , CM000676.1:g.88412032C= GRCh37
NC_000014.7:g.87481785C= NCBI36
NG_011853.2:g.52876G=
NG_011853.3:g.52876G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1535G= MANE Select ENSP00000261304.2:p.Gly512=
ENST00000261304.6:c.1535G= ENSP00000261304.2:p.Gly512=
ENST00000393568.8:c.1466G= ENSP00000377198.4:p.Gly489=
ENST00000393569.6:c.1457G= ENSP00000377199.2:p.Gly486=
ENST00000544807.6:c.1367G= ENSP00000437513.2:p.Gly456=
ENST00000555000.5:c.902G= ENSP00000450472.1:p.Gly301=
ENST00000555179.1:c.206+2040G=
ENST00000557316.5:c.*933G= ENSP00000452314.1:n.*933G=
NM_000153.3:c.1535G= NP_000144.2:p.Gly512=
NM_001201401.1:c.1466G= NP_001188330.1:p.Gly489=
NM_001201402.1:c.1457G= NP_001188331.1:p.Gly486=
XM_011536618.1:c.1367G= XP_011534920.1:p.Gly456=
XM_011536618.2:c.1367G= XP_011534920.1:p.Gly456=
NM_000153.4:c.1535G= MANE Select NP_000144.2:p.Gly512=
NM_001201401.2:c.1466G= NP_001188330.1:p.Gly489=
NM_001201402.2:c.1457G= NP_001188331.1:p.Gly486=