Canonical Allele Identifier: CA1327071146
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780901G= , CM000664.2:g.214780901G= GRCh38
NC_000002.11:g.215645625G= , CM000664.1:g.215645625G= GRCh37
NC_000002.10:g.215353870G= NCBI36
NG_012047.2:g.33804C=
NG_012047.3:g.33811C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.973C= MANE Select ENSP00000260947.4:p.His325=
ENST00000421162.2:c.215+16160C= ENSP00000392245.2:n.215+16160C=
ENST00000613192.2:c.158+28511C= ENSP00000483275.2:n.158+28511C=
ENST00000613374.5:c.159-28346C= ENSP00000484464.1:n.159-28346C=
ENST00000613706.5:c.906+67C= ENSP00000484976.2:n.906+67C=
ENST00000617164.5:c.916C= ENSP00000480470.1:p.His306=
ENST00000619009.5:c.364+11396C= ENSP00000482293.1:n.364+11396C=
ENST00000650978.1:c.815C=
ENST00000260947.8:c.973C= ENSP00000260947.4:p.His325=
ENST00000421162.1:c.215+16160C= ENSP00000392245.1:n.215+16160C=
ENST00000455743.5:c.*593C= ENSP00000412186.1:n.*593C=
ENST00000471787.1:n.868C=
ENST00000613192.1:c.73+28511C= ENSP00000483275.1:n.73+28511C=
ENST00000613374.4:c.159-28346C= ENSP00000484464.1:n.159-28346C=
ENST00000613706.4:c.215+16160C= ENSP00000484976.1:n.215+16160C=
ENST00000617164.4:c.916C= ENSP00000480470.1:p.His306=
ENST00000619009.4:c.364+11396C= ENSP00000482293.1:n.364+11396C=
ENST00000620057.4:c.364+11396C= ENSP00000481988.1:n.364+11396C=
NM_000465.3:c.973C= NP_000456.2:p.His325=
NM_001282543.1:c.916C= NP_001269472.1:p.His306=
NM_001282545.1:c.215+16160C= NP_001269474.1:n.215+16160C=
NM_001282548.1:c.159-28346C= NP_001269477.1:n.159-28346C=
NM_001282549.1:c.364+11396C= NP_001269478.1:n.364+11396C=
NR_104212.1:n.966C=
NR_104215.1:n.909C=
NR_104216.1:n.506+11396C=
XM_011511567.1:c.919C= XP_011509869.1:p.His307=
XM_011511568.1:c.973C= XP_011509870.1:p.His325=
XM_017004613.1:c.1072C= XP_016860102.1:p.His358=
XM_017004614.1:c.1072C= XP_016860103.1:p.His358=
XR_002959322.1:n.1163C=
NM_000465.4:c.973C= MANE Select NP_000456.2:p.His325=
NM_001282543.2:c.916C= NP_001269472.1:p.His306=
NM_001282545.2:c.215+16160C= NP_001269474.1:n.215+16160C=
NM_001282548.2:c.159-28346C= NP_001269477.1:n.159-28346C=
NM_001282549.2:c.364+11396C= NP_001269478.1:n.364+11396C=
NR_104212.2:n.938C=
NR_104215.2:n.881C=
NR_104216.2:n.478+11396C=