Canonical Allele Identifier: CA1327046399
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730469T= , CM000664.2:g.214730469T= GRCh38
NC_000002.11:g.215595193T= , CM000664.1:g.215595193T= GRCh37
NC_000002.10:g.215303438T= NCBI36
NG_012047.2:g.84236A=
NG_012047.3:g.84243A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1943A= MANE Select ENSP00000260947.4:p.Glu648=
ENST00000421162.2:c.590A= ENSP00000392245.2:p.Glu197=
ENST00000613192.2:c.*6A= ENSP00000483275.2:n.*6A=
ENST00000613374.5:c.533A= ENSP00000484464.1:p.Glu178=
ENST00000613706.5:c.1535A= ENSP00000484976.2:p.Glu512=
ENST00000617164.5:c.1886A= ENSP00000480470.1:p.Glu629=
ENST00000619009.5:c.404A= ENSP00000482293.1:p.Glu135=
ENST00000650978.1:c.3318A=
ENST00000260947.8:c.1943A= ENSP00000260947.4:p.Glu648=
ENST00000421162.1:c.590A= ENSP00000392245.1:p.Glu197=
ENST00000432456.5:c.40A=
ENST00000455743.5:c.*1563A= ENSP00000412186.1:n.*1563A=
ENST00000471590.5:n.278A=
ENST00000613192.1:c.113A= ENSP00000483275.1:p.Glu38=
ENST00000613374.4:c.533A= ENSP00000484464.1:p.Glu178=
ENST00000613706.4:c.590A= ENSP00000484976.1:p.Glu197=
ENST00000617164.4:c.1886A= ENSP00000480470.1:p.Glu629=
ENST00000619009.4:c.404A= ENSP00000482293.1:p.Glu135=
ENST00000620057.4:c.*609A= ENSP00000481988.1:n.*609A=
NM_000465.3:c.1943A= NP_000456.2:p.Glu648=
NM_001282543.1:c.1886A= NP_001269472.1:p.Glu629=
NM_001282545.1:c.590A= NP_001269474.1:p.Glu197=
NM_001282548.1:c.533A= NP_001269477.1:p.Glu178=
NM_001282549.1:c.404A= NP_001269478.1:p.Glu135=
NR_104212.1:n.1936A=
NR_104215.1:n.1879A=
NR_104216.1:n.1135A=
XM_011511567.1:c.1889A= XP_011509869.1:p.Glu630=
XM_017004613.1:c.2042A= XP_016860102.1:p.Glu681=
XR_002959322.1:n.2133A=
NM_000465.4:c.1943A= MANE Select NP_000456.2:p.Glu648=
NM_001282543.2:c.1886A= NP_001269472.1:p.Glu629=
NM_001282545.2:c.590A= NP_001269474.1:p.Glu197=
NM_001282548.2:c.533A= NP_001269477.1:p.Glu178=
NM_001282549.2:c.404A= NP_001269478.1:p.Glu135=
NR_104212.2:n.1908A=
NR_104215.2:n.1851A=
NR_104216.2:n.1107A=