Canonical Allele Identifier: CA393941950

Gene: CERS3

Linked Data

• ClinVar Variation Id: 2691721
• ClinVar RCV Id: RCV003490905
• gnomAD v4: 15-100476155-C-T
• MyVariant Identifiers: chr15:g.101016360C>T (hg19) ; chr15:g.100476155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100476155C>T , CM000677.2:g.100476155C>T	GRCh38
NC_000015.9:g.101016360C>T , CM000677.1:g.101016360C>T	GRCh37
NC_000015.8:g.98833883C>T	NCBI36
NG_042826.1:g.73566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679737.1:c.540G>A MANE Select	ENSP00000506641.1:p.Trp180Ter
ENST00000284382.8:c.540G>A	ENSP00000284382.4:p.Trp180Ter
ENST00000394113.5:c.540G>A	ENSP00000377672.3:p.Trp180Ter
ENST00000538112.6:c.540G>A	ENSP00000437640.2:p.Trp180Ter
ENST00000560348.1:n.93G>A
ENST00000560944.1:n.93+68748G>A
NM_001290341.1:c.573G>A	NP_001277270.1:p.Trp191Ter
NM_001290341.2:c.573G>A	NP_001277270.1:p.Trp191Ter
NM_001290342.1:c.540G>A	NP_001277271.1:p.Trp180Ter
NM_001290342.2:c.540G>A	NP_001277271.1:p.Trp180Ter
NM_001290343.1:c.540G>A	NP_001277272.1:p.Trp180Ter
NM_178842.3:c.540G>A	NP_849164.2:p.Trp180Ter
NM_178842.4:c.540G>A	NP_849164.2:p.Trp180Ter
XM_011521355.1:c.573G>A	XP_011519657.1:p.Trp191Ter
XM_011521356.1:c.573G>A	XP_011519658.1:p.Trp191Ter
XM_011521357.1:c.573G>A	XP_011519659.1:p.Trp191Ter
XM_011521358.1:c.573G>A	XP_011519660.1:p.Trp191Ter
XM_011521355.2:c.573G>A	XP_011519657.1:p.Trp191Ter
XM_011521357.2:c.573G>A	XP_011519659.1:p.Trp191Ter
XM_017022002.1:c.573G>A	XP_016877491.1:p.Trp191Ter
XM_017022003.1:c.540G>A	XP_016877492.1:p.Trp180Ter
XM_017022004.1:c.540G>A	XP_016877493.1:p.Trp180Ter
NM_001290343.2:c.540G>A	NP_001277272.1:p.Trp180Ter
NM_178842.5:c.540G>A	NP_849164.2:p.Trp180Ter
NM_001378789.1:c.540G>A MANE Select	NP_001365718.1:p.Trp180Ter