Canonical Allele Identifier: CA1327045453
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728707A= , CM000664.2:g.214728707A= GRCh38
NC_000002.11:g.215593431A= , CM000664.1:g.215593431A= GRCh37
NC_000002.10:g.215301676A= NCBI36
NG_012047.2:g.85998T=
NG_012047.3:g.86005T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2303T= MANE Select ENSP00000260947.4:p.Met768=
ENST00000421162.2:c.950T= ENSP00000392245.2:p.Met317=
ENST00000613192.2:c.*366T= ENSP00000483275.2:n.*366T=
ENST00000613374.5:c.893T= ENSP00000484464.1:p.Met298=
ENST00000613706.5:c.1895T= ENSP00000484976.2:p.Met632=
ENST00000617164.5:c.2246T= ENSP00000480470.1:p.Met749=
ENST00000619009.5:c.764T= ENSP00000482293.1:p.Met255=
ENST00000650978.1:c.3678T=
ENST00000260947.8:c.2303T= ENSP00000260947.4:p.Met768=
ENST00000432456.5:c.446T=
ENST00000455743.5:c.*1923T= ENSP00000412186.1:n.*1923T=
ENST00000471590.5:n.638T=
ENST00000613192.1:c.473T= ENSP00000483275.1:p.Met158=
ENST00000613374.4:c.893T= ENSP00000484464.1:p.Met298=
ENST00000613706.4:c.950T= ENSP00000484976.1:p.Met317=
ENST00000617164.4:c.2246T= ENSP00000480470.1:p.Met749=
ENST00000619009.4:c.764T= ENSP00000482293.1:p.Met255=
ENST00000620057.4:c.*969T= ENSP00000481988.1:n.*969T=
NM_000465.3:c.2303T= NP_000456.2:p.Met768=
NM_001282543.1:c.2246T= NP_001269472.1:p.Met749=
NM_001282545.1:c.950T= NP_001269474.1:p.Met317=
NM_001282548.1:c.893T= NP_001269477.1:p.Met298=
NM_001282549.1:c.764T= NP_001269478.1:p.Met255=
NR_104212.1:n.2296T=
NR_104215.1:n.2239T=
NR_104216.1:n.1495T=
XM_011511567.1:c.2249T= XP_011509869.1:p.Met750=
XM_017004613.1:c.2402T= XP_016860102.1:p.Met801=
XR_002959322.1:n.2669T=
NM_000465.4:c.2303T= MANE Select NP_000456.2:p.Met768=
NM_001282543.2:c.2246T= NP_001269472.1:p.Met749=
NM_001282545.2:c.950T= NP_001269474.1:p.Met317=
NM_001282548.2:c.893T= NP_001269477.1:p.Met298=
NM_001282549.2:c.764T= NP_001269478.1:p.Met255=
NR_104212.2:n.2268T=
NR_104215.2:n.2211T=
NR_104216.2:n.1467T=