Canonical Allele Identifier: CA1327045512
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728772G= , CM000664.2:g.214728772G= GRCh38
NC_000002.11:g.215593496G= , CM000664.1:g.215593496G= GRCh37
NC_000002.10:g.215301741G= NCBI36
NG_012047.2:g.85933C=
NG_012047.3:g.85940C=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.2238C= MANE Select ENSP00000260947.4:p.His746=
ENST00000421162.2:c.885C= ENSP00000392245.2:p.His295=
ENST00000613192.2:c.*301C= ENSP00000483275.2:n.*301C=
ENST00000613374.5:c.828C= ENSP00000484464.1:p.His276=
ENST00000613706.5:c.1830C= ENSP00000484976.2:p.His610=
ENST00000617164.5:c.2181C= ENSP00000480470.1:p.His727=
ENST00000619009.5:c.699C= ENSP00000482293.1:p.His233=
ENST00000650978.1:c.3613C=
ENST00000260947.8:c.2238C= ENSP00000260947.4:p.His746=
ENST00000432456.5:c.381C=
ENST00000455743.5:c.*1858C= ENSP00000412186.1:n.*1858C=
ENST00000471590.5:n.573C=
ENST00000613192.1:c.408C= ENSP00000483275.1:p.His136=
ENST00000613374.4:c.828C= ENSP00000484464.1:p.His276=
ENST00000613706.4:c.885C= ENSP00000484976.1:p.His295=
ENST00000617164.4:c.2181C= ENSP00000480470.1:p.His727=
ENST00000619009.4:c.699C= ENSP00000482293.1:p.His233=
ENST00000620057.4:c.*904C= ENSP00000481988.1:n.*904C=
NM_000465.3:c.2238C= NP_000456.2:p.His746=
NM_001282543.1:c.2181C= NP_001269472.1:p.His727=
NM_001282545.1:c.885C= NP_001269474.1:p.His295=
NM_001282548.1:c.828C= NP_001269477.1:p.His276=
NM_001282549.1:c.699C= NP_001269478.1:p.His233=
NR_104212.1:n.2231C=
NR_104215.1:n.2174C=
NR_104216.1:n.1430C=
XM_011511567.1:c.2184C= XP_011509869.1:p.His728=
XM_017004613.1:c.2337C= XP_016860102.1:p.His779=
XR_002959322.1:n.2604C=
NM_000465.4:c.2238C= MANE Select NP_000456.2:p.His746=
NM_001282543.2:c.2181C= NP_001269472.1:p.His727=
NM_001282545.2:c.885C= NP_001269474.1:p.His295=
NM_001282548.2:c.828C= NP_001269477.1:p.His276=
NM_001282549.2:c.699C= NP_001269478.1:p.His233=
NR_104212.2:n.2203C=
NR_104215.2:n.2146C=
NR_104216.2:n.1402C=