Canonical Allele Identifier: CA1327053330
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745092A= , CM000664.2:g.214745092A= GRCh38
NC_000002.11:g.215609816A= , CM000664.1:g.215609816A= GRCh37
NC_000002.10:g.215318061A= NCBI36
NG_012047.2:g.69613T=
NG_012047.3:g.69620T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1878T= MANE Select ENSP00000260947.4:p.Asn626=
ENST00000421162.2:c.525T= ENSP00000392245.2:p.Asn175=
ENST00000613192.2:c.159-14584T= ENSP00000483275.2:n.159-14584T=
ENST00000613374.5:c.468T= ENSP00000484464.1:p.Asn156=
ENST00000613706.5:c.1470T= ENSP00000484976.2:p.Asn490=
ENST00000617164.5:c.1821T= ENSP00000480470.1:p.Asn607=
ENST00000619009.5:c.365-14584T= ENSP00000482293.1:n.365-14584T=
ENST00000650978.1:c.3253T=
ENST00000260947.8:c.1878T= ENSP00000260947.4:p.Asn626=
ENST00000421162.1:c.525T= ENSP00000392245.1:p.Asn175=
ENST00000455743.5:c.*1498T= ENSP00000412186.1:n.*1498T=
ENST00000613192.1:c.74-14584T= ENSP00000483275.1:n.74-14584T=
ENST00000613374.4:c.468T= ENSP00000484464.1:p.Asn156=
ENST00000613706.4:c.525T= ENSP00000484976.1:p.Asn175=
ENST00000617164.4:c.1821T= ENSP00000480470.1:p.Asn607=
ENST00000619009.4:c.365-14584T= ENSP00000482293.1:n.365-14584T=
ENST00000620057.4:c.*544T= ENSP00000481988.1:n.*544T=
NM_000465.3:c.1878T= NP_000456.2:p.Asn626=
NM_001282543.1:c.1821T= NP_001269472.1:p.Asn607=
NM_001282545.1:c.525T= NP_001269474.1:p.Asn175=
NM_001282548.1:c.468T= NP_001269477.1:p.Asn156=
NM_001282549.1:c.365-14584T= NP_001269478.1:n.365-14584T=
NR_104212.1:n.1871T=
NR_104215.1:n.1814T=
NR_104216.1:n.1070T=
XM_011511567.1:c.1824T= XP_011509869.1:p.Asn608=
XM_011511568.1:c.1878T= XP_011509870.1:p.Asn626=
XM_017004613.1:c.1977T= XP_016860102.1:p.Asn659=
XM_017004614.1:c.1977T= XP_016860103.1:p.Asn659=
XR_002959322.1:n.2068T=
NM_000465.4:c.1878T= MANE Select NP_000456.2:p.Asn626=
NM_001282543.2:c.1821T= NP_001269472.1:p.Asn607=
NM_001282545.2:c.525T= NP_001269474.1:p.Asn175=
NM_001282548.2:c.468T= NP_001269477.1:p.Asn156=
NM_001282549.2:c.365-14584T= NP_001269478.1:n.365-14584T=
NR_104212.2:n.1843T=
NR_104215.2:n.1786T=
NR_104216.2:n.1042T=