Canonical Allele Identifier: CA1327045496
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728755T= , CM000664.2:g.214728755T= GRCh38
NC_000002.11:g.215593479T= , CM000664.1:g.215593479T= GRCh37
NC_000002.10:g.215301724T= NCBI36
NG_012047.2:g.85950A=
NG_012047.3:g.85957A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2255A= MANE Select ENSP00000260947.4:p.Gln752=
ENST00000421162.2:c.902A= ENSP00000392245.2:p.Gln301=
ENST00000613192.2:c.*318A= ENSP00000483275.2:n.*318A=
ENST00000613374.5:c.845A= ENSP00000484464.1:p.Gln282=
ENST00000613706.5:c.1847A= ENSP00000484976.2:p.Gln616=
ENST00000617164.5:c.2198A= ENSP00000480470.1:p.Gln733=
ENST00000619009.5:c.716A= ENSP00000482293.1:p.Gln239=
ENST00000650978.1:c.3630A=
ENST00000260947.8:c.2255A= ENSP00000260947.4:p.Gln752=
ENST00000432456.5:c.398A=
ENST00000455743.5:c.*1875A= ENSP00000412186.1:n.*1875A=
ENST00000471590.5:n.590A=
ENST00000613192.1:c.425A= ENSP00000483275.1:p.Gln142=
ENST00000613374.4:c.845A= ENSP00000484464.1:p.Gln282=
ENST00000613706.4:c.902A= ENSP00000484976.1:p.Gln301=
ENST00000617164.4:c.2198A= ENSP00000480470.1:p.Gln733=
ENST00000619009.4:c.716A= ENSP00000482293.1:p.Gln239=
ENST00000620057.4:c.*921A= ENSP00000481988.1:n.*921A=
NM_000465.3:c.2255A= NP_000456.2:p.Gln752=
NM_001282543.1:c.2198A= NP_001269472.1:p.Gln733=
NM_001282545.1:c.902A= NP_001269474.1:p.Gln301=
NM_001282548.1:c.845A= NP_001269477.1:p.Gln282=
NM_001282549.1:c.716A= NP_001269478.1:p.Gln239=
NR_104212.1:n.2248A=
NR_104215.1:n.2191A=
NR_104216.1:n.1447A=
XM_011511567.1:c.2201A= XP_011509869.1:p.Gln734=
XM_017004613.1:c.2354A= XP_016860102.1:p.Gln785=
XR_002959322.1:n.2621A=
NM_000465.4:c.2255A= MANE Select NP_000456.2:p.Gln752=
NM_001282543.2:c.2198A= NP_001269472.1:p.Gln733=
NM_001282545.2:c.902A= NP_001269474.1:p.Gln301=
NM_001282548.2:c.845A= NP_001269477.1:p.Gln282=
NM_001282549.2:c.716A= NP_001269478.1:p.Gln239=
NR_104212.2:n.2220A=
NR_104215.2:n.2163A=
NR_104216.2:n.1419A=