Canonical Allele Identifier: CA275525449
Gene: CERS3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100455833C>T , CM000677.2:g.100455833C>T GRCh38
NC_000015.9:g.100996038C>T , CM000677.1:g.100996038C>T GRCh37
NC_000015.8:g.98813561C>T NCBI36
NG_042826.1:g.93888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679737.1:c.999+60G>A MANE Select ENSP00000506641.1:n.999+60G>A
ENST00000284382.8:c.999+60G>A ENSP00000284382.4:n.999+60G>A
ENST00000394113.5:c.999+60G>A ENSP00000377672.3:n.999+60G>A
ENST00000538112.6:c.999+60G>A ENSP00000437640.2:n.999+60G>A
ENST00000560944.1:n.94-52968G>A
NM_001290341.1:c.1032+60G>A NP_001277270.1:n.1032+60G>A
NM_001290341.2:c.1032+60G>A NP_001277270.1:n.1032+60G>A
NM_001290342.1:c.999+60G>A NP_001277271.1:n.999+60G>A
NM_001290342.2:c.999+60G>A NP_001277271.1:n.999+60G>A
NM_001290343.1:c.999+60G>A NP_001277272.1:n.999+60G>A
NM_178842.3:c.999+60G>A NP_849164.2:n.999+60G>A
NM_178842.4:c.999+60G>A NP_849164.2:n.999+60G>A
XM_011521355.1:c.1032+60G>A XP_011519657.1:n.1032+60G>A
XM_011521356.1:c.1032+60G>A XP_011519658.1:n.1032+60G>A
XM_011521357.1:c.1032+60G>A XP_011519659.1:n.1032+60G>A
XM_011521358.1:c.1032+60G>A XP_011519660.1:n.1032+60G>A
XM_011521355.2:c.1032+60G>A XP_011519657.1:n.1032+60G>A
XM_011521357.2:c.1032+60G>A XP_011519659.1:n.1032+60G>A
XM_017022002.1:c.1032+60G>A XP_016877491.1:n.1032+60G>A
XM_017022003.1:c.999+60G>A XP_016877492.1:n.999+60G>A
XM_017022004.1:c.999+60G>A XP_016877493.1:n.999+60G>A
NM_001290343.2:c.999+60G>A NP_001277272.1:n.999+60G>A
NM_178842.5:c.999+60G>A NP_849164.2:n.999+60G>A
NM_001378789.1:c.999+60G>A MANE Select NP_001365718.1:n.999+60G>A