Canonical Allele Identifier: CA1327045567
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728838C= , CM000664.2:g.214728838C= GRCh38
NC_000002.11:g.215593562C= , CM000664.1:g.215593562C= GRCh37
NC_000002.10:g.215301807C= NCBI36
NG_012047.2:g.85867G=
NG_012047.3:g.85874G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2172G= MANE Select ENSP00000260947.4:p.Ala724=
ENST00000421162.2:c.819G= ENSP00000392245.2:p.Ala273=
ENST00000613192.2:c.*235G= ENSP00000483275.2:n.*235G=
ENST00000613374.5:c.762G= ENSP00000484464.1:p.Ala254=
ENST00000613706.5:c.1764G= ENSP00000484976.2:p.Ala588=
ENST00000617164.5:c.2115G= ENSP00000480470.1:p.Ala705=
ENST00000619009.5:c.633G= ENSP00000482293.1:p.Ala211=
ENST00000650978.1:c.3547G=
ENST00000260947.8:c.2172G= ENSP00000260947.4:p.Ala724=
ENST00000432456.5:c.315G=
ENST00000455743.5:c.*1792G= ENSP00000412186.1:n.*1792G=
ENST00000471590.5:n.507G=
ENST00000613192.1:c.342G= ENSP00000483275.1:p.Ala114=
ENST00000613374.4:c.762G= ENSP00000484464.1:p.Ala254=
ENST00000613706.4:c.819G= ENSP00000484976.1:p.Ala273=
ENST00000617164.4:c.2115G= ENSP00000480470.1:p.Ala705=
ENST00000619009.4:c.633G= ENSP00000482293.1:p.Ala211=
ENST00000620057.4:c.*838G= ENSP00000481988.1:n.*838G=
NM_000465.3:c.2172G= NP_000456.2:p.Ala724=
NM_001282543.1:c.2115G= NP_001269472.1:p.Ala705=
NM_001282545.1:c.819G= NP_001269474.1:p.Ala273=
NM_001282548.1:c.762G= NP_001269477.1:p.Ala254=
NM_001282549.1:c.633G= NP_001269478.1:p.Ala211=
NR_104212.1:n.2165G=
NR_104215.1:n.2108G=
NR_104216.1:n.1364G=
XM_011511567.1:c.2118G= XP_011509869.1:p.Ala706=
XM_017004613.1:c.2271G= XP_016860102.1:p.Ala757=
XR_002959322.1:n.2538G=
NM_000465.4:c.2172G= MANE Select NP_000456.2:p.Ala724=
NM_001282543.2:c.2115G= NP_001269472.1:p.Ala705=
NM_001282545.2:c.819G= NP_001269474.1:p.Ala273=
NM_001282548.2:c.762G= NP_001269477.1:p.Ala254=
NM_001282549.2:c.633G= NP_001269478.1:p.Ala211=
NR_104212.2:n.2137G=
NR_104215.2:n.2080G=
NR_104216.2:n.1336G=