Canonical Allele Identifier: CA350454802
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1717899
ClinVar RCV Id: RCV002304815

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780924T>A , CM000664.2:g.214780924T>A GRCh38
NC_000002.11:g.215645648T>A , CM000664.1:g.215645648T>A GRCh37
NC_000002.10:g.215353893T>A NCBI36
NG_012047.2:g.33781A>T
NG_012047.3:g.33788A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.950A>T MANE Select ENSP00000260947.4:p.Glu317Val
ENST00000421162.2:c.215+16137A>T ENSP00000392245.2:n.215+16137A>T
ENST00000613192.2:c.158+28488A>T ENSP00000483275.2:n.158+28488A>T
ENST00000613374.5:c.159-28369A>T ENSP00000484464.1:n.159-28369A>T
ENST00000613706.5:c.906+44A>T ENSP00000484976.2:n.906+44A>T
ENST00000617164.5:c.893A>T ENSP00000480470.1:p.Glu298Val
ENST00000619009.5:c.364+11373A>T ENSP00000482293.1:n.364+11373A>T
ENST00000650978.1:c.792A>T
ENST00000260947.8:c.950A>T ENSP00000260947.4:p.Glu317Val
ENST00000421162.1:c.215+16137A>T ENSP00000392245.1:n.215+16137A>T
ENST00000455743.5:c.*570A>T ENSP00000412186.1:n.*570A>T
ENST00000471787.1:n.845A>T
ENST00000613192.1:c.73+28488A>T ENSP00000483275.1:n.73+28488A>T
ENST00000613374.4:c.159-28369A>T ENSP00000484464.1:n.159-28369A>T
ENST00000613706.4:c.215+16137A>T ENSP00000484976.1:n.215+16137A>T
ENST00000617164.4:c.893A>T ENSP00000480470.1:p.Glu298Val
ENST00000619009.4:c.364+11373A>T ENSP00000482293.1:n.364+11373A>T
ENST00000620057.4:c.364+11373A>T ENSP00000481988.1:n.364+11373A>T
NM_000465.3:c.950A>T NP_000456.2:p.Glu317Val
NM_001282543.1:c.893A>T NP_001269472.1:p.Glu298Val
NM_001282545.1:c.215+16137A>T NP_001269474.1:n.215+16137A>T
NM_001282548.1:c.159-28369A>T NP_001269477.1:n.159-28369A>T
NM_001282549.1:c.364+11373A>T NP_001269478.1:n.364+11373A>T
NR_104212.1:n.943A>T
NR_104215.1:n.886A>T
NR_104216.1:n.506+11373A>T
XM_011511567.1:c.896A>T XP_011509869.1:p.Glu299Val
XM_011511568.1:c.950A>T XP_011509870.1:p.Glu317Val
XM_017004613.1:c.1049A>T XP_016860102.1:p.Glu350Val
XM_017004614.1:c.1049A>T XP_016860103.1:p.Glu350Val
XR_002959322.1:n.1140A>T
NM_000465.4:c.950A>T MANE Select NP_000456.2:p.Glu317Val
NM_001282543.2:c.893A>T NP_001269472.1:p.Glu298Val
NM_001282545.2:c.215+16137A>T NP_001269474.1:n.215+16137A>T
NM_001282548.2:c.159-28369A>T NP_001269477.1:n.159-28369A>T
NM_001282549.2:c.364+11373A>T NP_001269478.1:n.364+11373A>T
NR_104212.2:n.915A>T
NR_104215.2:n.858A>T
NR_104216.2:n.478+11373A>T