Canonical Allele Identifier: CA275544869

Gene: CERS3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100484476G>A , CM000677.2:g.100484476G>A	GRCh38
NC_000015.9:g.101024681G>A , CM000677.1:g.101024681G>A	GRCh37
NC_000015.8:g.98842204G>A	NCBI36
NG_042826.1:g.65245C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378789.1:c.407+74C>T MANE Select	NP_001365718.1:n.407+74C>T
ENST00000679737.1:c.407+74C>T MANE Select	ENSP00000506641.1:n.407+74C>T
NM_001290341.1:c.440+74C>T	NP_001277270.1:n.440+74C>T
NM_001290341.2:c.440+74C>T	NP_001277270.1:n.440+74C>T
NM_001290342.1:c.407+74C>T	NP_001277271.1:n.407+74C>T
NM_001290342.2:c.407+74C>T	NP_001277271.1:n.407+74C>T
NM_001290343.1:c.407+74C>T	NP_001277272.1:n.407+74C>T
NM_001290343.2:c.407+74C>T	NP_001277272.1:n.407+74C>T
NM_178842.3:c.407+74C>T	NP_849164.2:n.407+74C>T
NM_178842.4:c.407+74C>T	NP_849164.2:n.407+74C>T
NM_178842.5:c.407+74C>T	NP_849164.2:n.407+74C>T
ENST00000284382.8:c.407+74C>T	ENSP00000284382.4:n.407+74C>T
ENST00000394113.5:c.407+74C>T	ENSP00000377672.3:n.407+74C>T
ENST00000538112.6:c.407+74C>T	ENSP00000437640.2:n.407+74C>T
ENST00000558884.6:c.407+74C>T	ENSP00000453816.2:n.407+74C>T
ENST00000560944.1:n.93+60427C>T
XM_011521355.1:c.440+74C>T	XP_011519657.1:n.440+74C>T
XM_011521355.2:c.440+74C>T	XP_011519657.1:n.440+74C>T
XM_011521356.1:c.440+74C>T	XP_011519658.1:n.440+74C>T
XM_011521357.1:c.440+74C>T	XP_011519659.1:n.440+74C>T
XM_011521357.2:c.440+74C>T	XP_011519659.1:n.440+74C>T
XM_011521358.1:c.440+74C>T	XP_011519660.1:n.440+74C>T
XM_017022002.1:c.440+74C>T	XP_016877491.1:n.440+74C>T
XM_017022003.1:c.407+74C>T	XP_016877492.1:n.407+74C>T
XM_017022004.1:c.407+74C>T	XP_016877493.1:n.407+74C>T