Canonical Allele Identifier: CA2153346383
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968224G= , CM000676.2:g.87968224G= GRCh38
NC_000014.8:g.88434568G= , CM000676.1:g.88434568G= GRCh37
NC_000014.7:g.87504321G= NCBI36
NG_011853.2:g.30340C=
NG_011853.3:g.30340C=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.908+111C= MANE Select ENSP00000261304.2:n.908+111C=
ENST00000261304.6:c.908+111C= ENSP00000261304.2:n.908+111C=
ENST00000393568.8:c.839+111C= ENSP00000377198.4:n.839+111C=
ENST00000393569.6:c.830+111C= ENSP00000377199.2:n.830+111C=
ENST00000474294.6:n.898+111C=
ENST00000544807.6:c.740+111C= ENSP00000437513.2:n.740+111C=
ENST00000555000.5:c.275+111C= ENSP00000450472.1:n.275+111C=
ENST00000557316.5:c.*306+111C= ENSP00000452314.1:n.*306+111C=
ENST00000622264.4:c.898+111C=
NM_000153.3:c.908+111C= NP_000144.2:n.908+111C=
NM_001201401.1:c.839+111C= NP_001188330.1:n.839+111C=
NM_001201402.1:c.830+111C= NP_001188331.1:n.830+111C=
XM_011536618.1:c.740+111C= XP_011534920.1:n.740+111C=
XM_011536618.2:c.740+111C= XP_011534920.1:n.740+111C=
NM_000153.4:c.908+111C= MANE Select NP_000144.2:n.908+111C=
NM_001201401.2:c.839+111C= NP_001188330.1:n.839+111C=
NM_001201402.2:c.830+111C= NP_001188331.1:n.830+111C=