Canonical Allele Identifier: CA1327045472
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728730C= , CM000664.2:g.214728730C= GRCh38
NC_000002.11:g.215593454C= , CM000664.1:g.215593454C= GRCh37
NC_000002.10:g.215301699C= NCBI36
NG_012047.2:g.85975G=
NG_012047.3:g.85982G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2280G= MANE Select ENSP00000260947.4:p.Ser760=
ENST00000421162.2:c.927G= ENSP00000392245.2:p.Ser309=
ENST00000613192.2:c.*343G= ENSP00000483275.2:n.*343G=
ENST00000613374.5:c.870G= ENSP00000484464.1:p.Ser290=
ENST00000613706.5:c.1872G= ENSP00000484976.2:p.Ser624=
ENST00000617164.5:c.2223G= ENSP00000480470.1:p.Ser741=
ENST00000619009.5:c.741G= ENSP00000482293.1:p.Ser247=
ENST00000650978.1:c.3655G=
ENST00000260947.8:c.2280G= ENSP00000260947.4:p.Ser760=
ENST00000432456.5:c.423G=
ENST00000455743.5:c.*1900G= ENSP00000412186.1:n.*1900G=
ENST00000471590.5:n.615G=
ENST00000613192.1:c.450G= ENSP00000483275.1:p.Ser150=
ENST00000613374.4:c.870G= ENSP00000484464.1:p.Ser290=
ENST00000613706.4:c.927G= ENSP00000484976.1:p.Ser309=
ENST00000617164.4:c.2223G= ENSP00000480470.1:p.Ser741=
ENST00000619009.4:c.741G= ENSP00000482293.1:p.Ser247=
ENST00000620057.4:c.*946G= ENSP00000481988.1:n.*946G=
NM_000465.3:c.2280G= NP_000456.2:p.Ser760=
NM_001282543.1:c.2223G= NP_001269472.1:p.Ser741=
NM_001282545.1:c.927G= NP_001269474.1:p.Ser309=
NM_001282548.1:c.870G= NP_001269477.1:p.Ser290=
NM_001282549.1:c.741G= NP_001269478.1:p.Ser247=
NR_104212.1:n.2273G=
NR_104215.1:n.2216G=
NR_104216.1:n.1472G=
XM_011511567.1:c.2226G= XP_011509869.1:p.Ser742=
XM_017004613.1:c.2379G= XP_016860102.1:p.Ser793=
XR_002959322.1:n.2646G=
NM_000465.4:c.2280G= MANE Select NP_000456.2:p.Ser760=
NM_001282543.2:c.2223G= NP_001269472.1:p.Ser741=
NM_001282545.2:c.927G= NP_001269474.1:p.Ser309=
NM_001282548.2:c.870G= NP_001269477.1:p.Ser290=
NM_001282549.2:c.741G= NP_001269478.1:p.Ser247=
NR_104212.2:n.2245G=
NR_104215.2:n.2188G=
NR_104216.2:n.1444G=