Canonical Allele Identifier: CA1327053346
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745112A= , CM000664.2:g.214745112A= GRCh38
NC_000002.11:g.215609836A= , CM000664.1:g.215609836A= GRCh37
NC_000002.10:g.215318081A= NCBI36
NG_012047.2:g.69593T=
NG_012047.3:g.69600T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1858T= MANE Select ENSP00000260947.4:p.Cys620=
ENST00000421162.2:c.505T= ENSP00000392245.2:p.Cys169=
ENST00000613192.2:c.159-14604T= ENSP00000483275.2:n.159-14604T=
ENST00000613374.5:c.448T= ENSP00000484464.1:p.Cys150=
ENST00000613706.5:c.1450T= ENSP00000484976.2:p.Cys484=
ENST00000617164.5:c.1801T= ENSP00000480470.1:p.Cys601=
ENST00000619009.5:c.365-14604T= ENSP00000482293.1:n.365-14604T=
ENST00000650978.1:c.3233T=
ENST00000260947.8:c.1858T= ENSP00000260947.4:p.Cys620=
ENST00000421162.1:c.505T= ENSP00000392245.1:p.Cys169=
ENST00000455743.5:c.*1478T= ENSP00000412186.1:n.*1478T=
ENST00000613192.1:c.74-14604T= ENSP00000483275.1:n.74-14604T=
ENST00000613374.4:c.448T= ENSP00000484464.1:p.Cys150=
ENST00000613706.4:c.505T= ENSP00000484976.1:p.Cys169=
ENST00000617164.4:c.1801T= ENSP00000480470.1:p.Cys601=
ENST00000619009.4:c.365-14604T= ENSP00000482293.1:n.365-14604T=
ENST00000620057.4:c.*524T= ENSP00000481988.1:n.*524T=
NM_000465.3:c.1858T= NP_000456.2:p.Cys620=
NM_001282543.1:c.1801T= NP_001269472.1:p.Cys601=
NM_001282545.1:c.505T= NP_001269474.1:p.Cys169=
NM_001282548.1:c.448T= NP_001269477.1:p.Cys150=
NM_001282549.1:c.365-14604T= NP_001269478.1:n.365-14604T=
NR_104212.1:n.1851T=
NR_104215.1:n.1794T=
NR_104216.1:n.1050T=
XM_011511567.1:c.1804T= XP_011509869.1:p.Cys602=
XM_011511568.1:c.1858T= XP_011509870.1:p.Cys620=
XM_017004613.1:c.1957T= XP_016860102.1:p.Cys653=
XM_017004614.1:c.1957T= XP_016860103.1:p.Cys653=
XR_002959322.1:n.2048T=
NM_000465.4:c.1858T= MANE Select NP_000456.2:p.Cys620=
NM_001282543.2:c.1801T= NP_001269472.1:p.Cys601=
NM_001282545.2:c.505T= NP_001269474.1:p.Cys169=
NM_001282548.2:c.448T= NP_001269477.1:p.Cys150=
NM_001282549.2:c.365-14604T= NP_001269478.1:n.365-14604T=
NR_104212.2:n.1823T=
NR_104215.2:n.1766T=
NR_104216.2:n.1022T=