Canonical Allele Identifier: CA1327046417
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730495A= , CM000664.2:g.214730495A= GRCh38
NC_000002.11:g.215595219A= , CM000664.1:g.215595219A= GRCh37
NC_000002.10:g.215303464A= NCBI36
NG_012047.2:g.84210T=
NG_012047.3:g.84217T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1917T= MANE Select ENSP00000260947.4:p.Cys639=
ENST00000421162.2:c.564T= ENSP00000392245.2:p.Cys188=
ENST00000613192.2:c.172T= ENSP00000483275.2:p.Ser58=
ENST00000613374.5:c.507T= ENSP00000484464.1:p.Cys169=
ENST00000613706.5:c.1509T= ENSP00000484976.2:p.Cys503=
ENST00000617164.5:c.1860T= ENSP00000480470.1:p.Cys620=
ENST00000619009.5:c.378T= ENSP00000482293.1:p.Cys126=
ENST00000650978.1:c.3292T=
ENST00000260947.8:c.1917T= ENSP00000260947.4:p.Cys639=
ENST00000421162.1:c.564T= ENSP00000392245.1:p.Cys188=
ENST00000432456.5:c.14T=
ENST00000455743.5:c.*1537T= ENSP00000412186.1:n.*1537T=
ENST00000471590.5:n.252T=
ENST00000613192.1:c.87T= ENSP00000483275.1:p.Cys29=
ENST00000613374.4:c.507T= ENSP00000484464.1:p.Cys169=
ENST00000613706.4:c.564T= ENSP00000484976.1:p.Cys188=
ENST00000617164.4:c.1860T= ENSP00000480470.1:p.Cys620=
ENST00000619009.4:c.378T= ENSP00000482293.1:p.Cys126=
ENST00000620057.4:c.*583T= ENSP00000481988.1:n.*583T=
NM_000465.3:c.1917T= NP_000456.2:p.Cys639=
NM_001282543.1:c.1860T= NP_001269472.1:p.Cys620=
NM_001282545.1:c.564T= NP_001269474.1:p.Cys188=
NM_001282548.1:c.507T= NP_001269477.1:p.Cys169=
NM_001282549.1:c.378T= NP_001269478.1:p.Cys126=
NR_104212.1:n.1910T=
NR_104215.1:n.1853T=
NR_104216.1:n.1109T=
XM_011511567.1:c.1863T= XP_011509869.1:p.Cys621=
XM_017004613.1:c.2016T= XP_016860102.1:p.Cys672=
XR_002959322.1:n.2107T=
NM_000465.4:c.1917T= MANE Select NP_000456.2:p.Cys639=
NM_001282543.2:c.1860T= NP_001269472.1:p.Cys620=
NM_001282545.2:c.564T= NP_001269474.1:p.Cys188=
NM_001282548.2:c.507T= NP_001269477.1:p.Cys169=
NM_001282549.2:c.378T= NP_001269478.1:p.Cys126=
NR_104212.2:n.1882T=
NR_104215.2:n.1825T=
NR_104216.2:n.1081T=