Canonical Allele Identifier: CA1327046354
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730416G= , CM000664.2:g.214730416G= GRCh38
NC_000002.11:g.215595140G= , CM000664.1:g.215595140G= GRCh37
NC_000002.10:g.215303385G= NCBI36
NG_012047.2:g.84289C=
NG_012047.3:g.84296C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1996C= MANE Select ENSP00000260947.4:p.Gln666=
ENST00000421162.2:c.643C= ENSP00000392245.2:p.Gln215=
ENST00000613192.2:c.*59C= ENSP00000483275.2:n.*59C=
ENST00000613374.5:c.586C= ENSP00000484464.1:p.Gln196=
ENST00000613706.5:c.1588C= ENSP00000484976.2:p.Gln530=
ENST00000617164.5:c.1939C= ENSP00000480470.1:p.Gln647=
ENST00000619009.5:c.457C= ENSP00000482293.1:p.Gln153=
ENST00000650978.1:c.3371C=
ENST00000260947.8:c.1996C= ENSP00000260947.4:p.Gln666=
ENST00000421162.1:c.643C= ENSP00000392245.1:p.Gln215=
ENST00000432456.5:c.93C=
ENST00000455743.5:c.*1616C= ENSP00000412186.1:n.*1616C=
ENST00000471590.5:n.331C=
ENST00000613192.1:c.166C= ENSP00000483275.1:p.Gln56=
ENST00000613374.4:c.586C= ENSP00000484464.1:p.Gln196=
ENST00000613706.4:c.643C= ENSP00000484976.1:p.Gln215=
ENST00000617164.4:c.1939C= ENSP00000480470.1:p.Gln647=
ENST00000619009.4:c.457C= ENSP00000482293.1:p.Gln153=
ENST00000620057.4:c.*662C= ENSP00000481988.1:n.*662C=
NM_000465.3:c.1996C= NP_000456.2:p.Gln666=
NM_001282543.1:c.1939C= NP_001269472.1:p.Gln647=
NM_001282545.1:c.643C= NP_001269474.1:p.Gln215=
NM_001282548.1:c.586C= NP_001269477.1:p.Gln196=
NM_001282549.1:c.457C= NP_001269478.1:p.Gln153=
NR_104212.1:n.1989C=
NR_104215.1:n.1932C=
NR_104216.1:n.1188C=
XM_011511567.1:c.1942C= XP_011509869.1:p.Gln648=
XM_017004613.1:c.2095C= XP_016860102.1:p.Gln699=
XR_002959322.1:n.2186C=
NM_000465.4:c.1996C= MANE Select NP_000456.2:p.Gln666=
NM_001282543.2:c.1939C= NP_001269472.1:p.Gln647=
NM_001282545.2:c.643C= NP_001269474.1:p.Gln215=
NM_001282548.2:c.586C= NP_001269477.1:p.Gln196=
NM_001282549.2:c.457C= NP_001269478.1:p.Gln153=
NR_104212.2:n.1961C=
NR_104215.2:n.1904C=
NR_104216.2:n.1160C=