Canonical Allele Identifier: CA10575600

Gene: CERS3

Linked Data

• ClinVar Variation Id: 64621
• ClinVar RCV Id: RCV000054808
• dbSNP Id: rs762679102
• MyVariant Identifiers: chr15:g.101042012A>G (hg19) ; chr15:g.100501807A>G (hg38)
• PubMed: PMID:23549421

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100501807A>G , CM000677.2:g.100501807A>G	GRCh38
NC_000015.9:g.101042012A>G , CM000677.1:g.101042012A>G	GRCh37
NC_000015.8:g.98859535A>G	NCBI36
NG_042826.1:g.47914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679737.1:c.43T>C MANE Select	ENSP00000506641.1:p.Trp15Arg
ENST00000284382.8:c.43T>C	ENSP00000284382.4:p.Trp15Arg
ENST00000394113.5:c.43T>C	ENSP00000377672.3:p.Trp15Arg
ENST00000538112.6:c.43T>C	ENSP00000437640.2:p.Trp15Arg
ENST00000558884.6:c.43T>C	ENSP00000453816.2:p.Trp15Arg
ENST00000559023.5:n.587T>C
ENST00000559639.1:c.43T>C	ENSP00000453598.3:p.Trp15Arg
ENST00000560944.1:n.93+43096T>C
NM_001290341.1:c.76T>C	NP_001277270.1:p.Trp26Arg
NM_001290341.2:c.76T>C	NP_001277270.1:p.Trp26Arg
NM_001290342.1:c.43T>C	NP_001277271.1:p.Trp15Arg
NM_001290342.2:c.43T>C	NP_001277271.1:p.Trp15Arg
NM_001290343.1:c.43T>C	NP_001277272.1:p.Trp15Arg
NM_178842.3:c.43T>C	NP_849164.2:p.Trp15Arg
NM_178842.4:c.43T>C	NP_849164.2:p.Trp15Arg
XM_011521355.1:c.76T>C	XP_011519657.1:p.Trp26Arg
XM_011521356.1:c.76T>C	XP_011519658.1:p.Trp26Arg
XM_011521357.1:c.76T>C	XP_011519659.1:p.Trp26Arg
XM_011521358.1:c.76T>C	XP_011519660.1:p.Trp26Arg
XM_011521355.2:c.76T>C	XP_011519657.1:p.Trp26Arg
XM_011521357.2:c.76T>C	XP_011519659.1:p.Trp26Arg
XM_017022002.1:c.76T>C	XP_016877491.1:p.Trp26Arg
XM_017022003.1:c.43T>C	XP_016877492.1:p.Trp15Arg
XM_017022004.1:c.43T>C	XP_016877493.1:p.Trp15Arg
NM_001290343.2:c.43T>C	NP_001277272.1:p.Trp15Arg
NM_178842.5:c.43T>C	NP_849164.2:p.Trp15Arg
NM_001378789.1:c.43T>C MANE Select	NP_001365718.1:p.Trp15Arg