Canonical Allele Identifier: CA350451108
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730424T>A , CM000664.2:g.214730424T>A GRCh38
NC_000002.11:g.215595148T>A , CM000664.1:g.215595148T>A GRCh37
NC_000002.10:g.215303393T>A NCBI36
NG_012047.2:g.84281A>T
NG_012047.3:g.84288A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1988A>T MANE Select ENSP00000260947.4:p.Asn663Ile
ENST00000421162.2:c.635A>T ENSP00000392245.2:p.Asn212Ile
ENST00000613192.2:c.*51A>T ENSP00000483275.2:n.*51A>T
ENST00000613374.5:c.578A>T ENSP00000484464.1:p.Asn193Ile
ENST00000613706.5:c.1580A>T ENSP00000484976.2:p.Asn527Ile
ENST00000617164.5:c.1931A>T ENSP00000480470.1:p.Asn644Ile
ENST00000619009.5:c.449A>T ENSP00000482293.1:p.Asn150Ile
ENST00000650978.1:c.3363A>T
ENST00000260947.8:c.1988A>T ENSP00000260947.4:p.Asn663Ile
ENST00000421162.1:c.635A>T ENSP00000392245.1:p.Asn212Ile
ENST00000432456.5:c.85A>T
ENST00000455743.5:c.*1608A>T ENSP00000412186.1:n.*1608A>T
ENST00000471590.5:n.323A>T
ENST00000613192.1:c.158A>T ENSP00000483275.1:p.Asn53Ile
ENST00000613374.4:c.578A>T ENSP00000484464.1:p.Asn193Ile
ENST00000613706.4:c.635A>T ENSP00000484976.1:p.Asn212Ile
ENST00000617164.4:c.1931A>T ENSP00000480470.1:p.Asn644Ile
ENST00000619009.4:c.449A>T ENSP00000482293.1:p.Asn150Ile
ENST00000620057.4:c.*654A>T ENSP00000481988.1:n.*654A>T
NM_000465.3:c.1988A>T NP_000456.2:p.Asn663Ile
NM_001282543.1:c.1931A>T NP_001269472.1:p.Asn644Ile
NM_001282545.1:c.635A>T NP_001269474.1:p.Asn212Ile
NM_001282548.1:c.578A>T NP_001269477.1:p.Asn193Ile
NM_001282549.1:c.449A>T NP_001269478.1:p.Asn150Ile
NR_104212.1:n.1981A>T
NR_104215.1:n.1924A>T
NR_104216.1:n.1180A>T
XM_011511567.1:c.1934A>T XP_011509869.1:p.Asn645Ile
XM_017004613.1:c.2087A>T XP_016860102.1:p.Asn696Ile
XR_002959322.1:n.2178A>T
NM_000465.4:c.1988A>T MANE Select NP_000456.2:p.Asn663Ile
NM_001282543.2:c.1931A>T NP_001269472.1:p.Asn644Ile
NM_001282545.2:c.635A>T NP_001269474.1:p.Asn212Ile
NM_001282548.2:c.578A>T NP_001269477.1:p.Asn193Ile
NM_001282549.2:c.449A>T NP_001269478.1:p.Asn150Ile
NR_104212.2:n.1953A>T
NR_104215.2:n.1896A>T
NR_104216.2:n.1152A>T