Canonical Allele Identifier: CA1327071456
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781335T= , CM000664.2:g.214781335T= GRCh38
NC_000002.11:g.215646059T= , CM000664.1:g.215646059T= GRCh37
NC_000002.10:g.215354304T= NCBI36
NG_012047.2:g.33370A=
NG_012047.3:g.33377A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.539A= MANE Select ENSP00000260947.4:p.Tyr180=
ENST00000421162.2:c.215+15726A= ENSP00000392245.2:n.215+15726A=
ENST00000613192.2:c.158+28077A= ENSP00000483275.2:n.158+28077A=
ENST00000613374.5:c.158+28077A= ENSP00000484464.1:n.158+28077A=
ENST00000613706.5:c.539A= ENSP00000484976.2:p.Tyr180=
ENST00000617164.5:c.482A= ENSP00000480470.1:p.Tyr161=
ENST00000619009.5:c.364+10962A= ENSP00000482293.1:n.364+10962A=
ENST00000650978.1:c.381A=
ENST00000260947.8:c.539A= ENSP00000260947.4:p.Tyr180=
ENST00000421162.1:c.215+15726A= ENSP00000392245.1:n.215+15726A=
ENST00000455743.5:c.*159A= ENSP00000412186.1:n.*159A=
ENST00000471787.1:n.434A=
ENST00000613192.1:c.73+28077A= ENSP00000483275.1:n.73+28077A=
ENST00000613374.4:c.158+28077A= ENSP00000484464.1:n.158+28077A=
ENST00000613706.4:c.215+15726A= ENSP00000484976.1:n.215+15726A=
ENST00000617164.4:c.482A= ENSP00000480470.1:p.Tyr161=
ENST00000619009.4:c.364+10962A= ENSP00000482293.1:n.364+10962A=
ENST00000620057.4:c.364+10962A= ENSP00000481988.1:n.364+10962A=
NM_000465.3:c.539A= NP_000456.2:p.Tyr180=
NM_001282543.1:c.482A= NP_001269472.1:p.Tyr161=
NM_001282545.1:c.215+15726A= NP_001269474.1:n.215+15726A=
NM_001282548.1:c.158+28077A= NP_001269477.1:n.158+28077A=
NM_001282549.1:c.364+10962A= NP_001269478.1:n.364+10962A=
NR_104212.1:n.532A=
NR_104215.1:n.475A=
NR_104216.1:n.506+10962A=
XM_011511567.1:c.485A= XP_011509869.1:p.Tyr162=
XM_011511568.1:c.539A= XP_011509870.1:p.Tyr180=
XM_017004613.1:c.638A= XP_016860102.1:p.Tyr213=
XM_017004614.1:c.638A= XP_016860103.1:p.Tyr213=
XR_002959322.1:n.729A=
NM_000465.4:c.539A= MANE Select NP_000456.2:p.Tyr180=
NM_001282543.2:c.482A= NP_001269472.1:p.Tyr161=
NM_001282545.2:c.215+15726A= NP_001269474.1:n.215+15726A=
NM_001282548.2:c.158+28077A= NP_001269477.1:n.158+28077A=
NM_001282549.2:c.364+10962A= NP_001269478.1:n.364+10962A=
NR_104212.2:n.504A=
NR_104215.2:n.447A=
NR_104216.2:n.478+10962A=