Canonical Allele Identifier: CA2153358916
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947862C= , CM000676.2:g.87947862C= GRCh38
NC_000014.8:g.88414206C= , CM000676.1:g.88414206C= GRCh37
NC_000014.7:g.87483959C= NCBI36
NG_011853.2:g.50702G=
NG_011853.3:g.50702G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1355G= MANE Select ENSP00000261304.2:p.Gly452=
ENST00000261304.6:c.1355G= ENSP00000261304.2:p.Gly452=
ENST00000393568.8:c.1286G= ENSP00000377198.4:p.Gly429=
ENST00000393569.6:c.1277G= ENSP00000377199.2:p.Gly426=
ENST00000544807.6:c.1187G= ENSP00000437513.2:p.Gly396=
ENST00000555000.5:c.722G= ENSP00000450472.1:p.Gly241=
ENST00000555179.1:c.72G=
ENST00000557316.5:c.*753G= ENSP00000452314.1:n.*753G=
NM_000153.3:c.1355G= NP_000144.2:p.Gly452=
NM_001201401.1:c.1286G= NP_001188330.1:p.Gly429=
NM_001201402.1:c.1277G= NP_001188331.1:p.Gly426=
XM_011536618.1:c.1187G= XP_011534920.1:p.Gly396=
XM_011536618.2:c.1187G= XP_011534920.1:p.Gly396=
NM_000153.4:c.1355G= MANE Select NP_000144.2:p.Gly452=
NM_001201401.2:c.1286G= NP_001188330.1:p.Gly429=
NM_001201402.2:c.1277G= NP_001188331.1:p.Gly426=