Canonical Allele Identifier: CA2153381651
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976138C= , CM000676.2:g.87976138C= GRCh38
NC_000014.8:g.88442482C= , CM000676.1:g.88442482C= GRCh37
NC_000014.7:g.87512235C= NCBI36
NG_011853.2:g.22426G=
NG_011853.3:g.22426G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.752+220G= MANE Select ENSP00000261304.2:n.752+220G=
ENST00000261304.6:c.752+220G= ENSP00000261304.2:n.752+220G=
ENST00000393568.8:c.683+220G= ENSP00000377198.4:n.683+220G=
ENST00000393569.6:c.674+220G= ENSP00000377199.2:n.674+220G=
ENST00000474294.6:n.742+220G=
ENST00000477716.3:n.507+220G=
ENST00000544807.6:c.584+220G= ENSP00000437513.2:n.584+220G=
ENST00000555000.5:c.119+220G= ENSP00000450472.1:n.119+220G=
ENST00000557316.5:c.*150+220G= ENSP00000452314.1:n.*150+220G=
ENST00000622264.4:c.742+220G=
NM_000153.3:c.752+220G= NP_000144.2:n.752+220G=
NM_001201401.1:c.683+220G= NP_001188330.1:n.683+220G=
NM_001201402.1:c.674+220G= NP_001188331.1:n.674+220G=
XM_011536618.1:c.584+220G= XP_011534920.1:n.584+220G=
XM_011536618.2:c.584+220G= XP_011534920.1:n.584+220G=
NM_000153.4:c.752+220G= MANE Select NP_000144.2:n.752+220G=
NM_001201401.2:c.683+220G= NP_001188330.1:n.683+220G=
NM_001201402.2:c.674+220G= NP_001188331.1:n.674+220G=