Canonical Allele Identifier: CA2153346431
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968334C= , CM000676.2:g.87968334C= GRCh38
NC_000014.8:g.88434678C= , CM000676.1:g.88434678C= GRCh37
NC_000014.7:g.87504431C= NCBI36
NG_011853.2:g.30230G=
NG_011853.3:g.30230G=

Transcript Alleles

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