Canonical Allele Identifier: CA2153381681
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976216G= , CM000676.2:g.87976216G= GRCh38
NC_000014.8:g.88442560G= , CM000676.1:g.88442560G= GRCh37
NC_000014.7:g.87512313G= NCBI36
NG_011853.2:g.22348C=
NG_011853.3:g.22348C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.752+142C= MANE Select ENSP00000261304.2:n.752+142C=
ENST00000261304.6:c.752+142C= ENSP00000261304.2:n.752+142C=
ENST00000393568.8:c.683+142C= ENSP00000377198.4:n.683+142C=
ENST00000393569.6:c.674+142C= ENSP00000377199.2:n.674+142C=
ENST00000474294.6:n.742+142C=
ENST00000477716.3:n.507+142C=
ENST00000544807.6:c.584+142C= ENSP00000437513.2:n.584+142C=
ENST00000555000.5:c.119+142C= ENSP00000450472.1:n.119+142C=
ENST00000557316.5:c.*150+142C= ENSP00000452314.1:n.*150+142C=
ENST00000622264.4:c.742+142C=
NM_000153.3:c.752+142C= NP_000144.2:n.752+142C=
NM_001201401.1:c.683+142C= NP_001188330.1:n.683+142C=
NM_001201402.1:c.674+142C= NP_001188331.1:n.674+142C=
XM_011536618.1:c.584+142C= XP_011534920.1:n.584+142C=
XM_011536618.2:c.584+142C= XP_011534920.1:n.584+142C=
NM_000153.4:c.752+142C= MANE Select NP_000144.2:n.752+142C=
NM_001201401.2:c.683+142C= NP_001188330.1:n.683+142C=
NM_001201402.2:c.674+142C= NP_001188331.1:n.674+142C=