Canonical Allele Identifier: CA2090355

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780900T>C , CM000664.2:g.214780900T>C	GRCh38
NC_000002.11:g.215645624T>C , CM000664.1:g.215645624T>C	GRCh37
NC_000002.10:g.215353869T>C	NCBI36
NG_012047.2:g.33805A>G
NG_012047.3:g.33812A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.974A>G MANE Select	NP_000456.2:p.His325Arg
ENST00000260947.9:c.974A>G MANE Select	ENSP00000260947.4:p.His325Arg
NM_000465.3:c.974A>G	NP_000456.2:p.His325Arg
NM_001282543.1:c.917A>G	NP_001269472.1:p.His306Arg
NM_001282543.2:c.917A>G	NP_001269472.1:p.His306Arg
NM_001282545.1:c.215+16161A>G	NP_001269474.1:n.215+16161A>G
NM_001282545.2:c.215+16161A>G	NP_001269474.1:n.215+16161A>G
NM_001282548.1:c.159-28345A>G	NP_001269477.1:n.159-28345A>G
NM_001282548.2:c.159-28345A>G	NP_001269477.1:n.159-28345A>G
NM_001282549.1:c.364+11397A>G	NP_001269478.1:n.364+11397A>G
NM_001282549.2:c.364+11397A>G	NP_001269478.1:n.364+11397A>G
NR_104212.1:n.967A>G
NR_104212.2:n.939A>G
NR_104215.1:n.910A>G
NR_104215.2:n.882A>G
NR_104216.1:n.506+11397A>G
NR_104216.2:n.478+11397A>G
ENST00000260947.8:c.974A>G	ENSP00000260947.4:p.His325Arg
ENST00000421162.1:c.215+16161A>G	ENSP00000392245.1:n.215+16161A>G
ENST00000421162.2:c.215+16161A>G	ENSP00000392245.2:n.215+16161A>G
ENST00000455743.5:c.*594A>G	ENSP00000412186.1:n.*594A>G
ENST00000471787.1:n.869A>G
ENST00000613192.1:c.73+28512A>G	ENSP00000483275.1:n.73+28512A>G
ENST00000613192.2:c.158+28512A>G	ENSP00000483275.2:n.158+28512A>G
ENST00000613374.4:c.159-28345A>G	ENSP00000484464.1:n.159-28345A>G
ENST00000613374.5:c.159-28345A>G	ENSP00000484464.1:n.159-28345A>G
ENST00000613706.4:c.215+16161A>G	ENSP00000484976.1:n.215+16161A>G
ENST00000613706.5:c.906+68A>G	ENSP00000484976.2:n.906+68A>G
ENST00000617164.4:c.917A>G	ENSP00000480470.1:p.His306Arg
ENST00000617164.5:c.917A>G	ENSP00000480470.1:p.His306Arg
ENST00000619009.4:c.364+11397A>G	ENSP00000482293.1:n.364+11397A>G
ENST00000619009.5:c.364+11397A>G	ENSP00000482293.1:n.364+11397A>G
ENST00000620057.4:c.364+11397A>G	ENSP00000481988.1:n.364+11397A>G
ENST00000650978.1:c.816A>G
XM_011511567.1:c.920A>G	XP_011509869.1:p.His307Arg
XM_011511568.1:c.974A>G	XP_011509870.1:p.His325Arg
XM_017004613.1:c.1073A>G	XP_016860102.1:p.His358Arg
XM_017004614.1:c.1073A>G	XP_016860103.1:p.His358Arg
XR_002959322.1:n.1164A>G