Canonical Allele Identifier: CA2153352683
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939902T= , CM000676.2:g.87939902T= GRCh38
NC_000014.8:g.88406246T= , CM000676.1:g.88406246T= GRCh37
NC_000014.7:g.87475999T= NCBI36
NG_011853.2:g.58662A=
NG_011853.3:g.58662A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1911+3A= MANE Select ENSP00000261304.2:n.1911+3A=
ENST00000261304.6:c.1911+3A= ENSP00000261304.2:n.1911+3A=
ENST00000393568.8:c.1842+3A= ENSP00000377198.4:n.1842+3A=
ENST00000393569.6:c.1833+3A= ENSP00000377199.2:n.1833+3A=
ENST00000544807.6:c.1743+3A= ENSP00000437513.2:n.1743+3A=
ENST00000555000.5:c.1278+3A= ENSP00000450472.1:n.1278+3A=
ENST00000555179.1:c.447+3A=
NM_000153.3:c.1911+3A= NP_000144.2:n.1911+3A=
NM_001201401.1:c.1842+3A= NP_001188330.1:n.1842+3A=
NM_001201402.1:c.1833+3A= NP_001188331.1:n.1833+3A=
XM_011536618.1:c.1743+3A= XP_011534920.1:n.1743+3A=
XM_011536618.2:c.1743+3A= XP_011534920.1:n.1743+3A=
NM_000153.4:c.1911+3A= MANE Select NP_000144.2:n.1911+3A=
NM_001201401.2:c.1842+3A= NP_001188330.1:n.1842+3A=
NM_001201402.2:c.1833+3A= NP_001188331.1:n.1833+3A=