Canonical Allele Identifier: CA7759178

Gene: CERS3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100501716T>C , CM000677.2:g.100501716T>C	GRCh38
NC_000015.9:g.101041921T>C , CM000677.1:g.101041921T>C	GRCh37
NC_000015.8:g.98859444T>C	NCBI36
NG_042826.1:g.48005A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378789.1:c.134A>G MANE Select	NP_001365718.1:p.Tyr45Cys
ENST00000679737.1:c.134A>G MANE Select	ENSP00000506641.1:p.Tyr45Cys
NM_001290341.1:c.167A>G	NP_001277270.1:p.Tyr56Cys
NM_001290341.2:c.167A>G	NP_001277270.1:p.Tyr56Cys
NM_001290342.1:c.134A>G	NP_001277271.1:p.Tyr45Cys
NM_001290342.2:c.134A>G	NP_001277271.1:p.Tyr45Cys
NM_001290343.1:c.134A>G	NP_001277272.1:p.Tyr45Cys
NM_001290343.2:c.134A>G	NP_001277272.1:p.Tyr45Cys
NM_178842.3:c.134A>G	NP_849164.2:p.Tyr45Cys
NM_178842.4:c.134A>G	NP_849164.2:p.Tyr45Cys
NM_178842.5:c.134A>G	NP_849164.2:p.Tyr45Cys
ENST00000284382.8:c.134A>G	ENSP00000284382.4:p.Tyr45Cys
ENST00000394113.5:c.134A>G	ENSP00000377672.3:p.Tyr45Cys
ENST00000538112.6:c.134A>G	ENSP00000437640.2:p.Tyr45Cys
ENST00000558884.6:c.134A>G	ENSP00000453816.2:p.Tyr45Cys
ENST00000559023.5:n.678A>G
ENST00000560944.1:n.93+43187A>G
XM_011521355.1:c.167A>G	XP_011519657.1:p.Tyr56Cys
XM_011521355.2:c.167A>G	XP_011519657.1:p.Tyr56Cys
XM_011521356.1:c.167A>G	XP_011519658.1:p.Tyr56Cys
XM_011521357.1:c.167A>G	XP_011519659.1:p.Tyr56Cys
XM_011521357.2:c.167A>G	XP_011519659.1:p.Tyr56Cys
XM_011521358.1:c.167A>G	XP_011519660.1:p.Tyr56Cys
XM_017022002.1:c.167A>G	XP_016877491.1:p.Tyr56Cys
XM_017022003.1:c.134A>G	XP_016877492.1:p.Tyr45Cys
XM_017022004.1:c.134A>G	XP_016877493.1:p.Tyr45Cys