Canonical Allele Identifier: CA350458370
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781502T>G , CM000664.2:g.214781502T>G GRCh38
NC_000002.11:g.215646226T>G , CM000664.1:g.215646226T>G GRCh37
NC_000002.10:g.215354471T>G NCBI36
NG_012047.2:g.33203A>C
NG_012047.3:g.33210A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.372A>C MANE Select ENSP00000260947.4:p.Lys124Asn
ENST00000421162.2:c.215+15559A>C ENSP00000392245.2:n.215+15559A>C
ENST00000613192.2:c.158+27910A>C ENSP00000483275.2:n.158+27910A>C
ENST00000613374.5:c.158+27910A>C ENSP00000484464.1:n.158+27910A>C
ENST00000613706.5:c.372A>C ENSP00000484976.2:p.Lys124Asn
ENST00000617164.5:c.315A>C ENSP00000480470.1:p.Lys105Asn
ENST00000619009.5:c.364+10795A>C ENSP00000482293.1:n.364+10795A>C
ENST00000650978.1:c.214A>C
ENST00000260947.8:c.372A>C ENSP00000260947.4:p.Lys124Asn
ENST00000421162.1:c.215+15559A>C ENSP00000392245.1:n.215+15559A>C
ENST00000455743.5:c.223A>C ENSP00000412186.1:p.Arg75=
ENST00000471787.1:n.267A>C
ENST00000613192.1:c.73+27910A>C ENSP00000483275.1:n.73+27910A>C
ENST00000613374.4:c.158+27910A>C ENSP00000484464.1:n.158+27910A>C
ENST00000613706.4:c.215+15559A>C ENSP00000484976.1:n.215+15559A>C
ENST00000617164.4:c.315A>C ENSP00000480470.1:p.Lys105Asn
ENST00000619009.4:c.364+10795A>C ENSP00000482293.1:n.364+10795A>C
ENST00000620057.4:c.364+10795A>C ENSP00000481988.1:n.364+10795A>C
NM_000465.3:c.372A>C NP_000456.2:p.Lys124Asn
NM_001282543.1:c.315A>C NP_001269472.1:p.Lys105Asn
NM_001282545.1:c.215+15559A>C NP_001269474.1:n.215+15559A>C
NM_001282548.1:c.158+27910A>C NP_001269477.1:n.158+27910A>C
NM_001282549.1:c.364+10795A>C NP_001269478.1:n.364+10795A>C
NR_104212.1:n.365A>C
NR_104215.1:n.308A>C
NR_104216.1:n.506+10795A>C
XM_011511567.1:c.318A>C XP_011509869.1:p.Lys106Asn
XM_011511568.1:c.372A>C XP_011509870.1:p.Lys124Asn
XM_017004613.1:c.471A>C XP_016860102.1:p.Lys157Asn
XM_017004614.1:c.471A>C XP_016860103.1:p.Lys157Asn
XR_002959322.1:n.562A>C
NM_000465.4:c.372A>C MANE Select NP_000456.2:p.Lys124Asn
NM_001282543.2:c.315A>C NP_001269472.1:p.Lys105Asn
NM_001282545.2:c.215+15559A>C NP_001269474.1:n.215+15559A>C
NM_001282548.2:c.158+27910A>C NP_001269477.1:n.158+27910A>C
NM_001282549.2:c.364+10795A>C NP_001269478.1:n.364+10795A>C
NR_104212.2:n.337A>C
NR_104215.2:n.280A>C
NR_104216.2:n.478+10795A>C