Canonical Allele Identifier: CA1327046419
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730498T= , CM000664.2:g.214730498T= GRCh38
NC_000002.11:g.215595222T= , CM000664.1:g.215595222T= GRCh37
NC_000002.10:g.215303467T= NCBI36
NG_012047.2:g.84207A=
NG_012047.3:g.84214A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1914A= MANE Select ENSP00000260947.4:p.Ala638=
ENST00000421162.2:c.561A= ENSP00000392245.2:p.Ala187=
ENST00000613192.2:c.169A= ENSP00000483275.2:p.Met57=
ENST00000613374.5:c.504A= ENSP00000484464.1:p.Ala168=
ENST00000613706.5:c.1506A= ENSP00000484976.2:p.Ala502=
ENST00000617164.5:c.1857A= ENSP00000480470.1:p.Ala619=
ENST00000619009.5:c.375A= ENSP00000482293.1:p.Ala125=
ENST00000650978.1:c.3289A=
ENST00000260947.8:c.1914A= ENSP00000260947.4:p.Ala638=
ENST00000421162.1:c.561A= ENSP00000392245.1:p.Ala187=
ENST00000432456.5:c.11A=
ENST00000455743.5:c.*1534A= ENSP00000412186.1:n.*1534A=
ENST00000471590.5:n.249A=
ENST00000613192.1:c.84A= ENSP00000483275.1:p.Ala28=
ENST00000613374.4:c.504A= ENSP00000484464.1:p.Ala168=
ENST00000613706.4:c.561A= ENSP00000484976.1:p.Ala187=
ENST00000617164.4:c.1857A= ENSP00000480470.1:p.Ala619=
ENST00000619009.4:c.375A= ENSP00000482293.1:p.Ala125=
ENST00000620057.4:c.*580A= ENSP00000481988.1:n.*580A=
NM_000465.3:c.1914A= NP_000456.2:p.Ala638=
NM_001282543.1:c.1857A= NP_001269472.1:p.Ala619=
NM_001282545.1:c.561A= NP_001269474.1:p.Ala187=
NM_001282548.1:c.504A= NP_001269477.1:p.Ala168=
NM_001282549.1:c.375A= NP_001269478.1:p.Ala125=
NR_104212.1:n.1907A=
NR_104215.1:n.1850A=
NR_104216.1:n.1106A=
XM_011511567.1:c.1860A= XP_011509869.1:p.Ala620=
XM_017004613.1:c.2013A= XP_016860102.1:p.Ala671=
XR_002959322.1:n.2104A=
NM_000465.4:c.1914A= MANE Select NP_000456.2:p.Ala638=
NM_001282543.2:c.1857A= NP_001269472.1:p.Ala619=
NM_001282545.2:c.561A= NP_001269474.1:p.Ala187=
NM_001282548.2:c.504A= NP_001269477.1:p.Ala168=
NM_001282549.2:c.375A= NP_001269478.1:p.Ala125=
NR_104212.2:n.1879A=
NR_104215.2:n.1822A=
NR_104216.2:n.1078A=