Canonical Allele Identifier: CA1327045518
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728780T= , CM000664.2:g.214728780T= GRCh38
NC_000002.11:g.215593504T= , CM000664.1:g.215593504T= GRCh37
NC_000002.10:g.215301749T= NCBI36
NG_012047.2:g.85925A=
NG_012047.3:g.85932A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2230A= MANE Select ENSP00000260947.4:p.Asn744=
ENST00000421162.2:c.877A= ENSP00000392245.2:p.Asn293=
ENST00000613192.2:c.*293A= ENSP00000483275.2:n.*293A=
ENST00000613374.5:c.820A= ENSP00000484464.1:p.Asn274=
ENST00000613706.5:c.1822A= ENSP00000484976.2:p.Asn608=
ENST00000617164.5:c.2173A= ENSP00000480470.1:p.Asn725=
ENST00000619009.5:c.691A= ENSP00000482293.1:p.Asn231=
ENST00000650978.1:c.3605A=
ENST00000260947.8:c.2230A= ENSP00000260947.4:p.Asn744=
ENST00000432456.5:c.373A=
ENST00000455743.5:c.*1850A= ENSP00000412186.1:n.*1850A=
ENST00000471590.5:n.565A=
ENST00000613192.1:c.400A= ENSP00000483275.1:p.Asn134=
ENST00000613374.4:c.820A= ENSP00000484464.1:p.Asn274=
ENST00000613706.4:c.877A= ENSP00000484976.1:p.Asn293=
ENST00000617164.4:c.2173A= ENSP00000480470.1:p.Asn725=
ENST00000619009.4:c.691A= ENSP00000482293.1:p.Asn231=
ENST00000620057.4:c.*896A= ENSP00000481988.1:n.*896A=
NM_000465.3:c.2230A= NP_000456.2:p.Asn744=
NM_001282543.1:c.2173A= NP_001269472.1:p.Asn725=
NM_001282545.1:c.877A= NP_001269474.1:p.Asn293=
NM_001282548.1:c.820A= NP_001269477.1:p.Asn274=
NM_001282549.1:c.691A= NP_001269478.1:p.Asn231=
NR_104212.1:n.2223A=
NR_104215.1:n.2166A=
NR_104216.1:n.1422A=
XM_011511567.1:c.2176A= XP_011509869.1:p.Asn726=
XM_017004613.1:c.2329A= XP_016860102.1:p.Asn777=
XR_002959322.1:n.2596A=
NM_000465.4:c.2230A= MANE Select NP_000456.2:p.Asn744=
NM_001282543.2:c.2173A= NP_001269472.1:p.Asn725=
NM_001282545.2:c.877A= NP_001269474.1:p.Asn293=
NM_001282548.2:c.820A= NP_001269477.1:p.Asn274=
NM_001282549.2:c.691A= NP_001269478.1:p.Asn231=
NR_104212.2:n.2195A=
NR_104215.2:n.2138A=
NR_104216.2:n.1394A=