Canonical Allele Identifier: CA1042198154
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809339A>G , CM000664.2:g.214809339A>G GRCh38
NC_000002.11:g.215674063A>G , CM000664.1:g.215674063A>G GRCh37
NC_000002.10:g.215382308A>G NCBI36
NG_012047.2:g.5366T>C
NG_012047.3:g.5373T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.158+73T>C MANE Select ENSP00000260947.4:p.=
ENST00000421162.2:c.158+73T>C ENSP00000392245.2:p.=
ENST00000613192.2:c.158+73T>C ENSP00000483275.2:p.=
ENST00000613374.5:c.158+73T>C ENSP00000484464.1:p.=
ENST00000613706.5:c.158+73T>C ENSP00000484976.2:p.=
ENST00000617164.5:c.158+73T>C ENSP00000480470.1:p.=
ENST00000619009.5:c.158+73T>C ENSP00000482293.1:p.=
ENST00000260947.8:c.158+73T>C ENSP00000260947.4:p.=
ENST00000421162.1:c.158+73T>C ENSP00000392245.1:p.=
ENST00000455743.5:c.158+73T>C ENSP00000412186.1:p.=
ENST00000471787.1:n.259+73T>C
ENST00000479904.1:n.249+73T>C
ENST00000613192.1:c.73+73T>C ENSP00000483275.1:p.=
ENST00000613374.4:c.158+73T>C ENSP00000484464.1:p.=
ENST00000613706.4:c.158+73T>C ENSP00000484976.1:p.=
ENST00000617164.4:c.158+73T>C ENSP00000480470.1:p.=
ENST00000619009.4:c.158+73T>C ENSP00000482293.1:p.=
ENST00000620057.4:c.158+73T>C ENSP00000481988.1:p.=
NM_000465.3:c.158+73T>C NP_000456.2:p.=
NM_001282543.1:c.158+73T>C NP_001269472.1:p.=
NM_001282545.1:c.158+73T>C NP_001269474.1:p.=
NM_001282548.1:c.158+73T>C NP_001269477.1:p.=
NM_001282549.1:c.158+73T>C NP_001269478.1:p.=
NR_104212.1:n.300+73T>C
NR_104215.1:n.300+73T>C
NR_104216.1:n.300+73T>C
XM_011511568.1:c.158+73T>C XP_011509870.1:p.=
XM_017004613.1:c.158+73T>C XP_016860102.1:p.=
XM_017004614.1:c.158+73T>C XP_016860103.1:p.=
XR_002959322.1:n.249+73T>C
NM_000465.4:c.158+73T>C MANE Select NP_000456.2:p.=
NM_001282543.2:c.158+73T>C NP_001269472.1:p.=
NM_001282545.2:c.158+73T>C NP_001269474.1:p.=
NM_001282548.2:c.158+73T>C NP_001269477.1:p.=
NM_001282549.2:c.158+73T>C NP_001269478.1:p.=
NR_104212.2:n.272+73T>C
NR_104215.2:n.272+73T>C
NR_104216.2:n.272+73T>C