Canonical Allele Identifier: CA1327046421
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730500C= , CM000664.2:g.214730500C= GRCh38
NC_000002.11:g.215595224C= , CM000664.1:g.215595224C= GRCh37
NC_000002.10:g.215303469C= NCBI36
NG_012047.2:g.84205G=
NG_012047.3:g.84212G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1912G= MANE Select ENSP00000260947.4:p.Ala638=
ENST00000421162.2:c.559G= ENSP00000392245.2:p.Ala187=
ENST00000613192.2:c.167G= ENSP00000483275.2:p.Ser56=
ENST00000613374.5:c.502G= ENSP00000484464.1:p.Ala168=
ENST00000613706.5:c.1504G= ENSP00000484976.2:p.Ala502=
ENST00000617164.5:c.1855G= ENSP00000480470.1:p.Ala619=
ENST00000619009.5:c.373G= ENSP00000482293.1:p.Ala125=
ENST00000650978.1:c.3287G=
ENST00000260947.8:c.1912G= ENSP00000260947.4:p.Ala638=
ENST00000421162.1:c.559G= ENSP00000392245.1:p.Ala187=
ENST00000432456.5:c.9G=
ENST00000455743.5:c.*1532G= ENSP00000412186.1:n.*1532G=
ENST00000471590.5:n.247G=
ENST00000613192.1:c.82G= ENSP00000483275.1:p.Ala28=
ENST00000613374.4:c.502G= ENSP00000484464.1:p.Ala168=
ENST00000613706.4:c.559G= ENSP00000484976.1:p.Ala187=
ENST00000617164.4:c.1855G= ENSP00000480470.1:p.Ala619=
ENST00000619009.4:c.373G= ENSP00000482293.1:p.Ala125=
ENST00000620057.4:c.*578G= ENSP00000481988.1:n.*578G=
NM_000465.3:c.1912G= NP_000456.2:p.Ala638=
NM_001282543.1:c.1855G= NP_001269472.1:p.Ala619=
NM_001282545.1:c.559G= NP_001269474.1:p.Ala187=
NM_001282548.1:c.502G= NP_001269477.1:p.Ala168=
NM_001282549.1:c.373G= NP_001269478.1:p.Ala125=
NR_104212.1:n.1905G=
NR_104215.1:n.1848G=
NR_104216.1:n.1104G=
XM_011511567.1:c.1858G= XP_011509869.1:p.Ala620=
XM_017004613.1:c.2011G= XP_016860102.1:p.Ala671=
XR_002959322.1:n.2102G=
NM_000465.4:c.1912G= MANE Select NP_000456.2:p.Ala638=
NM_001282543.2:c.1855G= NP_001269472.1:p.Ala619=
NM_001282545.2:c.559G= NP_001269474.1:p.Ala187=
NM_001282548.2:c.502G= NP_001269477.1:p.Ala168=
NM_001282549.2:c.373G= NP_001269478.1:p.Ala125=
NR_104212.2:n.1877G=
NR_104215.2:n.1820G=
NR_104216.2:n.1076G=