Canonical Allele Identifier: CA2153357013
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945745G= , CM000676.2:g.87945745G= GRCh38
NC_000014.8:g.88412089G= , CM000676.1:g.88412089G= GRCh37
NC_000014.7:g.87481842G= NCBI36
NG_011853.2:g.52819C=
NG_011853.3:g.52819C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1490-12C= MANE Select ENSP00000261304.2:n.1490-12C=
ENST00000261304.6:c.1490-12C= ENSP00000261304.2:n.1490-12C=
ENST00000393568.8:c.1421-12C= ENSP00000377198.4:n.1421-12C=
ENST00000393569.6:c.1412-12C= ENSP00000377199.2:n.1412-12C=
ENST00000544807.6:c.1322-12C= ENSP00000437513.2:n.1322-12C=
ENST00000555000.5:c.857-12C= ENSP00000450472.1:n.857-12C=
ENST00000555179.1:c.206+1983C=
ENST00000557316.5:c.*888-12C= ENSP00000452314.1:n.*888-12C=
NM_000153.3:c.1490-12C= NP_000144.2:n.1490-12C=
NM_001201401.1:c.1421-12C= NP_001188330.1:n.1421-12C=
NM_001201402.1:c.1412-12C= NP_001188331.1:n.1412-12C=
XM_011536618.1:c.1322-12C= XP_011534920.1:n.1322-12C=
XM_011536618.2:c.1322-12C= XP_011534920.1:n.1322-12C=
NM_000153.4:c.1490-12C= MANE Select NP_000144.2:n.1490-12C=
NM_001201401.2:c.1421-12C= NP_001188330.1:n.1421-12C=
NM_001201402.2:c.1412-12C= NP_001188331.1:n.1412-12C=