Canonical Allele Identifier: CA1327071148
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780905G= , CM000664.2:g.214780905G= GRCh38
NC_000002.11:g.215645629G= , CM000664.1:g.215645629G= GRCh37
NC_000002.10:g.215353874G= NCBI36
NG_012047.2:g.33800C=
NG_012047.3:g.33807C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.969C= MANE Select ENSP00000260947.4:p.Gly323=
ENST00000421162.2:c.215+16156C= ENSP00000392245.2:n.215+16156C=
ENST00000613192.2:c.158+28507C= ENSP00000483275.2:n.158+28507C=
ENST00000613374.5:c.159-28350C= ENSP00000484464.1:n.159-28350C=
ENST00000613706.5:c.906+63C= ENSP00000484976.2:n.906+63C=
ENST00000617164.5:c.912C= ENSP00000480470.1:p.Gly304=
ENST00000619009.5:c.364+11392C= ENSP00000482293.1:n.364+11392C=
ENST00000650978.1:c.811C=
ENST00000260947.8:c.969C= ENSP00000260947.4:p.Gly323=
ENST00000421162.1:c.215+16156C= ENSP00000392245.1:n.215+16156C=
ENST00000455743.5:c.*589C= ENSP00000412186.1:n.*589C=
ENST00000471787.1:n.864C=
ENST00000613192.1:c.73+28507C= ENSP00000483275.1:n.73+28507C=
ENST00000613374.4:c.159-28350C= ENSP00000484464.1:n.159-28350C=
ENST00000613706.4:c.215+16156C= ENSP00000484976.1:n.215+16156C=
ENST00000617164.4:c.912C= ENSP00000480470.1:p.Gly304=
ENST00000619009.4:c.364+11392C= ENSP00000482293.1:n.364+11392C=
ENST00000620057.4:c.364+11392C= ENSP00000481988.1:n.364+11392C=
NM_000465.3:c.969C= NP_000456.2:p.Gly323=
NM_001282543.1:c.912C= NP_001269472.1:p.Gly304=
NM_001282545.1:c.215+16156C= NP_001269474.1:n.215+16156C=
NM_001282548.1:c.159-28350C= NP_001269477.1:n.159-28350C=
NM_001282549.1:c.364+11392C= NP_001269478.1:n.364+11392C=
NR_104212.1:n.962C=
NR_104215.1:n.905C=
NR_104216.1:n.506+11392C=
XM_011511567.1:c.915C= XP_011509869.1:p.Gly305=
XM_011511568.1:c.969C= XP_011509870.1:p.Gly323=
XM_017004613.1:c.1068C= XP_016860102.1:p.Gly356=
XM_017004614.1:c.1068C= XP_016860103.1:p.Gly356=
XR_002959322.1:n.1159C=
NM_000465.4:c.969C= MANE Select NP_000456.2:p.Gly323=
NM_001282543.2:c.912C= NP_001269472.1:p.Gly304=
NM_001282545.2:c.215+16156C= NP_001269474.1:n.215+16156C=
NM_001282548.2:c.159-28350C= NP_001269477.1:n.159-28350C=
NM_001282549.2:c.364+11392C= NP_001269478.1:n.364+11392C=
NR_104212.2:n.934C=
NR_104215.2:n.877C=
NR_104216.2:n.478+11392C=