Canonical Allele Identifier: CA14093453
Community Standard Title: NM_001378789.1(CERS3):c.845+53C>T
Gene: CERS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100469325G>A , CM000677.2:g.100469325G>A GRCh38
NC_000015.9:g.101009530G>A , CM000677.1:g.101009530G>A GRCh37
NC_000015.8:g.98827053G>A NCBI36
NG_042826.1:g.80396C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378789.1:c.845+53C>T MANE Select NP_001365718.1:n.845+53C>T
ENST00000679737.1:c.845+53C>T MANE Select ENSP00000506641.1:n.845+53C>T
NM_001290341.1:c.878+53C>T NP_001277270.1:n.878+53C>T
NM_001290341.2:c.878+53C>T NP_001277270.1:n.878+53C>T
NM_001290342.1:c.845+53C>T NP_001277271.1:n.845+53C>T
NM_001290342.2:c.845+53C>T NP_001277271.1:n.845+53C>T
NM_001290343.1:c.845+53C>T NP_001277272.1:n.845+53C>T
NM_001290343.2:c.845+53C>T NP_001277272.1:n.845+53C>T
NM_178842.3:c.845+53C>T NP_849164.2:n.845+53C>T
NM_178842.4:c.845+53C>T NP_849164.2:n.845+53C>T
NM_178842.5:c.845+53C>T NP_849164.2:n.845+53C>T
ENST00000284382.8:c.845+53C>T ENSP00000284382.4:n.845+53C>T
ENST00000394113.5:c.845+53C>T ENSP00000377672.3:n.845+53C>T
ENST00000538112.6:c.845+53C>T ENSP00000437640.2:n.845+53C>T
ENST00000560944.1:n.94-66460C>T
XM_011521355.1:c.878+53C>T XP_011519657.1:n.878+53C>T
XM_011521355.2:c.878+53C>T XP_011519657.1:n.878+53C>T
XM_011521356.1:c.878+53C>T XP_011519658.1:n.878+53C>T
XM_011521357.1:c.878+53C>T XP_011519659.1:n.878+53C>T
XM_011521357.2:c.878+53C>T XP_011519659.1:n.878+53C>T
XM_011521358.1:c.878+53C>T XP_011519660.1:n.878+53C>T
XM_017022002.1:c.878+53C>T XP_016877491.1:n.878+53C>T
XM_017022003.1:c.845+53C>T XP_016877492.1:n.845+53C>T
XM_017022004.1:c.845+53C>T XP_016877493.1:n.845+53C>T