Canonical Allele Identifier: CA350457474
Gene: BARD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781353C>T , CM000664.2:g.214781353C>T GRCh38
NC_000002.11:g.215646077C>T , CM000664.1:g.215646077C>T GRCh37
NC_000002.10:g.215354322C>T NCBI36
NG_012047.2:g.33352G>A
NG_012047.3:g.33359G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.521G>A MANE Select ENSP00000260947.4:p.Ser174Asn
ENST00000421162.2:c.215+15708G>A ENSP00000392245.2:n.215+15708G>A
ENST00000613192.2:c.158+28059G>A ENSP00000483275.2:n.158+28059G>A
ENST00000613374.5:c.158+28059G>A ENSP00000484464.1:n.158+28059G>A
ENST00000613706.5:c.521G>A ENSP00000484976.2:p.Ser174Asn
ENST00000617164.5:c.464G>A ENSP00000480470.1:p.Ser155Asn
ENST00000619009.5:c.364+10944G>A ENSP00000482293.1:n.364+10944G>A
ENST00000650978.1:c.363G>A
ENST00000260947.8:c.521G>A ENSP00000260947.4:p.Ser174Asn
ENST00000421162.1:c.215+15708G>A ENSP00000392245.1:n.215+15708G>A
ENST00000455743.5:c.*141G>A ENSP00000412186.1:n.*141G>A
ENST00000471787.1:n.416G>A
ENST00000613192.1:c.73+28059G>A ENSP00000483275.1:n.73+28059G>A
ENST00000613374.4:c.158+28059G>A ENSP00000484464.1:n.158+28059G>A
ENST00000613706.4:c.215+15708G>A ENSP00000484976.1:n.215+15708G>A
ENST00000617164.4:c.464G>A ENSP00000480470.1:p.Ser155Asn
ENST00000619009.4:c.364+10944G>A ENSP00000482293.1:n.364+10944G>A
ENST00000620057.4:c.364+10944G>A ENSP00000481988.1:n.364+10944G>A
NM_000465.3:c.521G>A NP_000456.2:p.Ser174Asn
NM_001282543.1:c.464G>A NP_001269472.1:p.Ser155Asn
NM_001282545.1:c.215+15708G>A NP_001269474.1:n.215+15708G>A
NM_001282548.1:c.158+28059G>A NP_001269477.1:n.158+28059G>A
NM_001282549.1:c.364+10944G>A NP_001269478.1:n.364+10944G>A
NR_104212.1:n.514G>A
NR_104215.1:n.457G>A
NR_104216.1:n.506+10944G>A
XM_011511567.1:c.467G>A XP_011509869.1:p.Ser156Asn
XM_011511568.1:c.521G>A XP_011509870.1:p.Ser174Asn
XM_017004613.1:c.620G>A XP_016860102.1:p.Ser207Asn
XM_017004614.1:c.620G>A XP_016860103.1:p.Ser207Asn
XR_002959322.1:n.711G>A
NM_000465.4:c.521G>A MANE Select NP_000456.2:p.Ser174Asn
NM_001282543.2:c.464G>A NP_001269472.1:p.Ser155Asn
NM_001282545.2:c.215+15708G>A NP_001269474.1:n.215+15708G>A
NM_001282548.2:c.158+28059G>A NP_001269477.1:n.158+28059G>A
NM_001282549.2:c.364+10944G>A NP_001269478.1:n.364+10944G>A
NR_104212.2:n.486G>A
NR_104215.2:n.429G>A
NR_104216.2:n.478+10944G>A
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