Canonical Allele Identifier: CA1327057342
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214752454C= , CM000664.2:g.214752454C= GRCh38
NC_000002.11:g.215617178C= , CM000664.1:g.215617178C= GRCh37
NC_000002.10:g.215325423C= NCBI36
NG_012047.2:g.62251G=
NG_012047.3:g.62258G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1670G= MANE Select ENSP00000260947.4:p.Cys557=
ENST00000421162.2:c.317G= ENSP00000392245.2:p.Cys106=
ENST00000613192.2:c.159-21946G= ENSP00000483275.2:n.159-21946G=
ENST00000613374.5:c.260G= ENSP00000484464.1:p.Cys87=
ENST00000613706.5:c.1262G= ENSP00000484976.2:p.Cys421=
ENST00000617164.5:c.1613G= ENSP00000480470.1:p.Cys538=
ENST00000619009.5:c.365-21946G= ENSP00000482293.1:n.365-21946G=
ENST00000650978.1:c.3045G=
ENST00000260947.8:c.1670G= ENSP00000260947.4:p.Cys557=
ENST00000421162.1:c.317G= ENSP00000392245.1:p.Cys106=
ENST00000455743.5:c.*1290G= ENSP00000412186.1:n.*1290G=
ENST00000465841.1:n.25G=
ENST00000613192.1:c.74-21946G= ENSP00000483275.1:n.74-21946G=
ENST00000613374.4:c.260G= ENSP00000484464.1:p.Cys87=
ENST00000613706.4:c.317G= ENSP00000484976.1:p.Cys106=
ENST00000617164.4:c.1613G= ENSP00000480470.1:p.Cys538=
ENST00000619009.4:c.365-21946G= ENSP00000482293.1:n.365-21946G=
ENST00000620057.4:c.*336G= ENSP00000481988.1:n.*336G=
NM_000465.3:c.1670G= NP_000456.2:p.Cys557=
NM_001282543.1:c.1613G= NP_001269472.1:p.Cys538=
NM_001282545.1:c.317G= NP_001269474.1:p.Cys106=
NM_001282548.1:c.260G= NP_001269477.1:p.Cys87=
NM_001282549.1:c.365-21946G= NP_001269478.1:n.365-21946G=
NR_104212.1:n.1663G=
NR_104215.1:n.1606G=
NR_104216.1:n.862G=
XM_011511567.1:c.1616G= XP_011509869.1:p.Cys539=
XM_011511568.1:c.1670G= XP_011509870.1:p.Cys557=
XM_017004613.1:c.1769G= XP_016860102.1:p.Cys590=
XM_017004614.1:c.1769G= XP_016860103.1:p.Cys590=
XR_002959322.1:n.1860G=
NM_000465.4:c.1670G= MANE Select NP_000456.2:p.Cys557=
NM_001282543.2:c.1613G= NP_001269472.1:p.Cys538=
NM_001282545.2:c.317G= NP_001269474.1:p.Cys106=
NM_001282548.2:c.260G= NP_001269477.1:p.Cys87=
NM_001282549.2:c.365-21946G= NP_001269478.1:n.365-21946G=
NR_104212.2:n.1635G=
NR_104215.2:n.1578G=
NR_104216.2:n.834G=