Canonical Allele Identifier: CA214693

Gene: CERS3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100476085C>A , CM000677.2:g.100476085C>A	GRCh38
NC_000015.9:g.101016290C>A , CM000677.1:g.101016290C>A	GRCh37
NC_000015.8:g.98833813C>A	NCBI36
NG_042826.1:g.73636G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378789.1:c.609+1G>T MANE Select	NP_001365718.1:n.609+1G>T
ENST00000679737.1:c.609+1G>T MANE Select	ENSP00000506641.1:n.609+1G>T
NM_001290341.1:c.642+1G>T	NP_001277270.1:n.642+1G>T
NM_001290341.2:c.642+1G>T	NP_001277270.1:n.642+1G>T
NM_001290342.1:c.609+1G>T	NP_001277271.1:n.609+1G>T
NM_001290342.2:c.609+1G>T	NP_001277271.1:n.609+1G>T
NM_001290343.1:c.609+1G>T	NP_001277272.1:n.609+1G>T
NM_001290343.2:c.609+1G>T	NP_001277272.1:n.609+1G>T
NM_178842.3:c.609+1G>T	NP_849164.2:n.609+1G>T
NM_178842.4:c.609+1G>T	NP_849164.2:n.609+1G>T
NM_178842.5:c.609+1G>T	NP_849164.2:n.609+1G>T
ENST00000284382.8:c.609+1G>T	ENSP00000284382.4:n.609+1G>T
ENST00000394113.5:c.609+1G>T	ENSP00000377672.3:n.609+1G>T
ENST00000538112.6:c.609+1G>T	ENSP00000437640.2:n.609+1G>T
ENST00000560348.1:n.163G>T
ENST00000560944.1:n.93+68818G>T
XM_011521355.1:c.642+1G>T	XP_011519657.1:n.642+1G>T
XM_011521355.2:c.642+1G>T	XP_011519657.1:n.642+1G>T
XM_011521356.1:c.642+1G>T	XP_011519658.1:n.642+1G>T
XM_011521357.1:c.642+1G>T	XP_011519659.1:n.642+1G>T
XM_011521357.2:c.642+1G>T	XP_011519659.1:n.642+1G>T
XM_011521358.1:c.642+1G>T	XP_011519660.1:n.642+1G>T
XM_017022002.1:c.642+1G>T	XP_016877491.1:n.642+1G>T
XM_017022003.1:c.609+1G>T	XP_016877492.1:n.609+1G>T
XM_017022004.1:c.609+1G>T	XP_016877493.1:n.609+1G>T