Canonical Allele Identifier: CA350455747
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781086C>A , CM000664.2:g.214781086C>A GRCh38
NC_000002.11:g.215645810C>A , CM000664.1:g.215645810C>A GRCh37
NC_000002.10:g.215354055C>A NCBI36
NG_012047.2:g.33619G>T
NG_012047.3:g.33626G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.788G>T MANE Select ENSP00000260947.4:p.Ser263Ile
ENST00000421162.2:c.215+15975G>T ENSP00000392245.2:n.215+15975G>T
ENST00000613192.2:c.158+28326G>T ENSP00000483275.2:n.158+28326G>T
ENST00000613374.5:c.158+28326G>T ENSP00000484464.1:n.158+28326G>T
ENST00000613706.5:c.788G>T ENSP00000484976.2:p.Ser263Ile
ENST00000617164.5:c.731G>T ENSP00000480470.1:p.Ser244Ile
ENST00000619009.5:c.364+11211G>T ENSP00000482293.1:n.364+11211G>T
ENST00000650978.1:c.630G>T
ENST00000260947.8:c.788G>T ENSP00000260947.4:p.Ser263Ile
ENST00000421162.1:c.215+15975G>T ENSP00000392245.1:n.215+15975G>T
ENST00000455743.5:c.*408G>T ENSP00000412186.1:n.*408G>T
ENST00000471787.1:n.683G>T
ENST00000613192.1:c.73+28326G>T ENSP00000483275.1:n.73+28326G>T
ENST00000613374.4:c.158+28326G>T ENSP00000484464.1:n.158+28326G>T
ENST00000613706.4:c.215+15975G>T ENSP00000484976.1:n.215+15975G>T
ENST00000617164.4:c.731G>T ENSP00000480470.1:p.Ser244Ile
ENST00000619009.4:c.364+11211G>T ENSP00000482293.1:n.364+11211G>T
ENST00000620057.4:c.364+11211G>T ENSP00000481988.1:n.364+11211G>T
NM_000465.3:c.788G>T NP_000456.2:p.Ser263Ile
NM_001282543.1:c.731G>T NP_001269472.1:p.Ser244Ile
NM_001282545.1:c.215+15975G>T NP_001269474.1:n.215+15975G>T
NM_001282548.1:c.158+28326G>T NP_001269477.1:n.158+28326G>T
NM_001282549.1:c.364+11211G>T NP_001269478.1:n.364+11211G>T
NR_104212.1:n.781G>T
NR_104215.1:n.724G>T
NR_104216.1:n.506+11211G>T
XM_011511567.1:c.734G>T XP_011509869.1:p.Ser245Ile
XM_011511568.1:c.788G>T XP_011509870.1:p.Ser263Ile
XM_017004613.1:c.887G>T XP_016860102.1:p.Ser296Ile
XM_017004614.1:c.887G>T XP_016860103.1:p.Ser296Ile
XR_002959322.1:n.978G>T
NM_000465.4:c.788G>T MANE Select NP_000456.2:p.Ser263Ile
NM_001282543.2:c.731G>T NP_001269472.1:p.Ser244Ile
NM_001282545.2:c.215+15975G>T NP_001269474.1:n.215+15975G>T
NM_001282548.2:c.158+28326G>T NP_001269477.1:n.158+28326G>T
NM_001282549.2:c.364+11211G>T NP_001269478.1:n.364+11211G>T
NR_104212.2:n.753G>T
NR_104215.2:n.696G>T
NR_104216.2:n.478+11211G>T