Canonical Allele Identifier: CA1327071454
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781333C= , CM000664.2:g.214781333C= GRCh38
NC_000002.11:g.215646057C= , CM000664.1:g.215646057C= GRCh37
NC_000002.10:g.215354302C= NCBI36
NG_012047.2:g.33372G=
NG_012047.3:g.33379G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.541G= MANE Select ENSP00000260947.4:p.Glu181=
ENST00000421162.2:c.215+15728G= ENSP00000392245.2:n.215+15728G=
ENST00000613192.2:c.158+28079G= ENSP00000483275.2:n.158+28079G=
ENST00000613374.5:c.158+28079G= ENSP00000484464.1:n.158+28079G=
ENST00000613706.5:c.541G= ENSP00000484976.2:p.Glu181=
ENST00000617164.5:c.484G= ENSP00000480470.1:p.Glu162=
ENST00000619009.5:c.364+10964G= ENSP00000482293.1:n.364+10964G=
ENST00000650978.1:c.383G=
ENST00000260947.8:c.541G= ENSP00000260947.4:p.Glu181=
ENST00000421162.1:c.215+15728G= ENSP00000392245.1:n.215+15728G=
ENST00000455743.5:c.*161G= ENSP00000412186.1:n.*161G=
ENST00000471787.1:n.436G=
ENST00000613192.1:c.73+28079G= ENSP00000483275.1:n.73+28079G=
ENST00000613374.4:c.158+28079G= ENSP00000484464.1:n.158+28079G=
ENST00000613706.4:c.215+15728G= ENSP00000484976.1:n.215+15728G=
ENST00000617164.4:c.484G= ENSP00000480470.1:p.Glu162=
ENST00000619009.4:c.364+10964G= ENSP00000482293.1:n.364+10964G=
ENST00000620057.4:c.364+10964G= ENSP00000481988.1:n.364+10964G=
NM_000465.3:c.541G= NP_000456.2:p.Glu181=
NM_001282543.1:c.484G= NP_001269472.1:p.Glu162=
NM_001282545.1:c.215+15728G= NP_001269474.1:n.215+15728G=
NM_001282548.1:c.158+28079G= NP_001269477.1:n.158+28079G=
NM_001282549.1:c.364+10964G= NP_001269478.1:n.364+10964G=
NR_104212.1:n.534G=
NR_104215.1:n.477G=
NR_104216.1:n.506+10964G=
XM_011511567.1:c.487G= XP_011509869.1:p.Glu163=
XM_011511568.1:c.541G= XP_011509870.1:p.Glu181=
XM_017004613.1:c.640G= XP_016860102.1:p.Glu214=
XM_017004614.1:c.640G= XP_016860103.1:p.Glu214=
XR_002959322.1:n.731G=
NM_000465.4:c.541G= MANE Select NP_000456.2:p.Glu181=
NM_001282543.2:c.484G= NP_001269472.1:p.Glu162=
NM_001282545.2:c.215+15728G= NP_001269474.1:n.215+15728G=
NM_001282548.2:c.158+28079G= NP_001269477.1:n.158+28079G=
NM_001282549.2:c.364+10964G= NP_001269478.1:n.364+10964G=
NR_104212.2:n.506G=
NR_104215.2:n.449G=
NR_104216.2:n.478+10964G=