Canonical Allele Identifier: CA1327045480
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728738C= , CM000664.2:g.214728738C= GRCh38
NC_000002.11:g.215593462C= , CM000664.1:g.215593462C= GRCh37
NC_000002.10:g.215301707C= NCBI36
NG_012047.2:g.85967G=
NG_012047.3:g.85974G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2272G= MANE Select ENSP00000260947.4:p.Ala758=
ENST00000421162.2:c.919G= ENSP00000392245.2:p.Ala307=
ENST00000613192.2:c.*335G= ENSP00000483275.2:n.*335G=
ENST00000613374.5:c.862G= ENSP00000484464.1:p.Ala288=
ENST00000613706.5:c.1864G= ENSP00000484976.2:p.Ala622=
ENST00000617164.5:c.2215G= ENSP00000480470.1:p.Ala739=
ENST00000619009.5:c.733G= ENSP00000482293.1:p.Ala245=
ENST00000650978.1:c.3647G=
ENST00000260947.8:c.2272G= ENSP00000260947.4:p.Ala758=
ENST00000432456.5:c.415G=
ENST00000455743.5:c.*1892G= ENSP00000412186.1:n.*1892G=
ENST00000471590.5:n.607G=
ENST00000613192.1:c.442G= ENSP00000483275.1:p.Ala148=
ENST00000613374.4:c.862G= ENSP00000484464.1:p.Ala288=
ENST00000613706.4:c.919G= ENSP00000484976.1:p.Ala307=
ENST00000617164.4:c.2215G= ENSP00000480470.1:p.Ala739=
ENST00000619009.4:c.733G= ENSP00000482293.1:p.Ala245=
ENST00000620057.4:c.*938G= ENSP00000481988.1:n.*938G=
NM_000465.3:c.2272G= NP_000456.2:p.Ala758=
NM_001282543.1:c.2215G= NP_001269472.1:p.Ala739=
NM_001282545.1:c.919G= NP_001269474.1:p.Ala307=
NM_001282548.1:c.862G= NP_001269477.1:p.Ala288=
NM_001282549.1:c.733G= NP_001269478.1:p.Ala245=
NR_104212.1:n.2265G=
NR_104215.1:n.2208G=
NR_104216.1:n.1464G=
XM_011511567.1:c.2218G= XP_011509869.1:p.Ala740=
XM_017004613.1:c.2371G= XP_016860102.1:p.Ala791=
XR_002959322.1:n.2638G=
NM_000465.4:c.2272G= MANE Select NP_000456.2:p.Ala758=
NM_001282543.2:c.2215G= NP_001269472.1:p.Ala739=
NM_001282545.2:c.919G= NP_001269474.1:p.Ala307=
NM_001282548.2:c.862G= NP_001269477.1:p.Ala288=
NM_001282549.2:c.733G= NP_001269478.1:p.Ala245=
NR_104212.2:n.2237G=
NR_104215.2:n.2180G=
NR_104216.2:n.1436G=