Canonical Allele Identifier: CA350450081
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728779T>A , CM000664.2:g.214728779T>A GRCh38
NC_000002.11:g.215593503T>A , CM000664.1:g.215593503T>A GRCh37
NC_000002.10:g.215301748T>A NCBI36
NG_012047.2:g.85926A>T
NG_012047.3:g.85933A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2231A>T MANE Select ENSP00000260947.4:p.Asn744Ile
ENST00000421162.2:c.878A>T ENSP00000392245.2:p.Asn293Ile
ENST00000613192.2:c.*294A>T ENSP00000483275.2:n.*294A>T
ENST00000613374.5:c.821A>T ENSP00000484464.1:p.Asn274Ile
ENST00000613706.5:c.1823A>T ENSP00000484976.2:p.Asn608Ile
ENST00000617164.5:c.2174A>T ENSP00000480470.1:p.Asn725Ile
ENST00000619009.5:c.692A>T ENSP00000482293.1:p.Asn231Ile
ENST00000650978.1:c.3606A>T
ENST00000260947.8:c.2231A>T ENSP00000260947.4:p.Asn744Ile
ENST00000432456.5:c.374A>T
ENST00000455743.5:c.*1851A>T ENSP00000412186.1:n.*1851A>T
ENST00000471590.5:n.566A>T
ENST00000613192.1:c.401A>T ENSP00000483275.1:p.Asn134Ile
ENST00000613374.4:c.821A>T ENSP00000484464.1:p.Asn274Ile
ENST00000613706.4:c.878A>T ENSP00000484976.1:p.Asn293Ile
ENST00000617164.4:c.2174A>T ENSP00000480470.1:p.Asn725Ile
ENST00000619009.4:c.692A>T ENSP00000482293.1:p.Asn231Ile
ENST00000620057.4:c.*897A>T ENSP00000481988.1:n.*897A>T
NM_000465.3:c.2231A>T NP_000456.2:p.Asn744Ile
NM_001282543.1:c.2174A>T NP_001269472.1:p.Asn725Ile
NM_001282545.1:c.878A>T NP_001269474.1:p.Asn293Ile
NM_001282548.1:c.821A>T NP_001269477.1:p.Asn274Ile
NM_001282549.1:c.692A>T NP_001269478.1:p.Asn231Ile
NR_104212.1:n.2224A>T
NR_104215.1:n.2167A>T
NR_104216.1:n.1423A>T
XM_011511567.1:c.2177A>T XP_011509869.1:p.Asn726Ile
XM_017004613.1:c.2330A>T XP_016860102.1:p.Asn777Ile
XR_002959322.1:n.2597A>T
NM_000465.4:c.2231A>T MANE Select NP_000456.2:p.Asn744Ile
NM_001282543.2:c.2174A>T NP_001269472.1:p.Asn725Ile
NM_001282545.2:c.878A>T NP_001269474.1:p.Asn293Ile
NM_001282548.2:c.821A>T NP_001269477.1:p.Asn274Ile
NM_001282549.2:c.692A>T NP_001269478.1:p.Asn231Ile
NR_104212.2:n.2196A>T
NR_104215.2:n.2139A>T
NR_104216.2:n.1395A>T