Canonical Allele Identifier: CA397858942
Gene: WRAP53 HGNC NCBI

Linked Data

ClinVar Variation Id: 2190510
ClinVar RCV Id: RCV002616426
gnomAD v4: 17-7689001-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7689001C>A , CM000679.2:g.7689001C>A GRCh38
NC_000017.10:g.7592319C>A , CM000679.1:g.7592319C>A GRCh37
NC_000017.9:g.7533044C>A NCBI36
NG_017013.2:g.3550G>T , LRG_321:g.3550G>T
NG_028245.1:g.7931C>A , LRG_375:g.7931C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698742.1:c.353C>A ENSP00000513904.1:p.Ala118Glu
ENST00000698743.1:c.353C>A ENSP00000513905.1:p.Ala118Glu
ENST00000698744.1:c.353C>A ENSP00000513906.1:p.Ala118Glu
ENST00000698745.1:c.353C>A ENSP00000513907.1:p.Ala118Glu
ENST00000698746.1:c.353C>A ENSP00000513908.1:p.Ala118Glu
ENST00000396463.7:c.353C>A MANE Select ENSP00000379727.3:p.Ala118Glu
ENST00000316024.9:c.353C>A ENSP00000324203.5:p.Ala118Glu
ENST00000396463.6:c.353C>A ENSP00000379727.2:p.Ala118Glu
ENST00000431639.6:c.353C>A ENSP00000397219.2:p.Ala118Glu
ENST00000457584.6:c.353C>A ENSP00000411061.2:p.Ala118Glu
ENST00000467699.5:n.439C>A
ENST00000498311.5:c.353C>A ENSP00000432991.1:p.Ala118Glu
ENST00000534050.5:c.353C>A ENSP00000434999.1:p.Ala118Glu
NM_001143990.1:c.353C>A NP_001137462.1:p.Ala118Glu
NM_001143991.1:c.353C>A NP_001137463.1:p.Ala118Glu
NM_001143992.1:c.353C>A NP_001137464.1:p.Ala118Glu
NM_018081.2:c.353C>A , LRG_375t1:c.353C>A NP_060551.2:p.Ala118Glu
XM_011523952.2:c.-280C>A XP_011522254.1:n.-280C>A
XM_024450824.1:c.-1723C>A XP_024306592.1:n.-1723C>A
XM_024450825.1:c.353C>A XP_024306593.1:p.Ala118Glu
XR_001752551.2:n.598C>A
NM_001143991.2:c.353C>A NP_001137463.1:p.Ala118Glu
NM_001143992.2:c.353C>A MANE Select NP_001137464.1:p.Ala118Glu
NM_001143990.2:c.353C>A NP_001137462.1:p.Ala118Glu