Canonical Allele Identifier: CA350450521
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728875T>A , CM000664.2:g.214728875T>A GRCh38
NC_000002.11:g.215593599T>A , CM000664.1:g.215593599T>A GRCh37
NC_000002.10:g.215301844T>A NCBI36
NG_012047.2:g.85830A>T
NG_012047.3:g.85837A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2135A>T MANE Select ENSP00000260947.4:p.Asp712Val
ENST00000421162.2:c.782A>T ENSP00000392245.2:p.Asp261Val
ENST00000613192.2:c.*198A>T ENSP00000483275.2:n.*198A>T
ENST00000613374.5:c.725A>T ENSP00000484464.1:p.Asp242Val
ENST00000613706.5:c.1727A>T ENSP00000484976.2:p.Asp576Val
ENST00000617164.5:c.2078A>T ENSP00000480470.1:p.Asp693Val
ENST00000619009.5:c.596A>T ENSP00000482293.1:p.Asp199Val
ENST00000650978.1:c.3510A>T
ENST00000260947.8:c.2135A>T ENSP00000260947.4:p.Asp712Val
ENST00000432456.5:c.278A>T
ENST00000455743.5:c.*1755A>T ENSP00000412186.1:n.*1755A>T
ENST00000471590.5:n.470A>T
ENST00000613192.1:c.305A>T ENSP00000483275.1:p.Asp102Val
ENST00000613374.4:c.725A>T ENSP00000484464.1:p.Asp242Val
ENST00000613706.4:c.782A>T ENSP00000484976.1:p.Asp261Val
ENST00000617164.4:c.2078A>T ENSP00000480470.1:p.Asp693Val
ENST00000619009.4:c.596A>T ENSP00000482293.1:p.Asp199Val
ENST00000620057.4:c.*801A>T ENSP00000481988.1:n.*801A>T
NM_000465.3:c.2135A>T NP_000456.2:p.Asp712Val
NM_001282543.1:c.2078A>T NP_001269472.1:p.Asp693Val
NM_001282545.1:c.782A>T NP_001269474.1:p.Asp261Val
NM_001282548.1:c.725A>T NP_001269477.1:p.Asp242Val
NM_001282549.1:c.596A>T NP_001269478.1:p.Asp199Val
NR_104212.1:n.2128A>T
NR_104215.1:n.2071A>T
NR_104216.1:n.1327A>T
XM_011511567.1:c.2081A>T XP_011509869.1:p.Asp694Val
XM_017004613.1:c.2234A>T XP_016860102.1:p.Asp745Val
XR_002959322.1:n.2501A>T
NM_000465.4:c.2135A>T MANE Select NP_000456.2:p.Asp712Val
NM_001282543.2:c.2078A>T NP_001269472.1:p.Asp693Val
NM_001282545.2:c.782A>T NP_001269474.1:p.Asp261Val
NM_001282548.2:c.725A>T NP_001269477.1:p.Asp242Val
NM_001282549.2:c.596A>T NP_001269478.1:p.Asp199Val
NR_104212.2:n.2100A>T
NR_104215.2:n.2043A>T
NR_104216.2:n.1299A>T