Canonical Allele Identifier: CA350449730
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728698T>A , CM000664.2:g.214728698T>A GRCh38
NC_000002.11:g.215593422T>A , CM000664.1:g.215593422T>A GRCh37
NC_000002.10:g.215301667T>A NCBI36
NG_012047.2:g.86007A>T
NG_012047.3:g.86014A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2312A>T MANE Select ENSP00000260947.4:p.Glu771Val
ENST00000421162.2:c.959A>T ENSP00000392245.2:p.Glu320Val
ENST00000613192.2:c.*375A>T ENSP00000483275.2:n.*375A>T
ENST00000613374.5:c.902A>T ENSP00000484464.1:p.Glu301Val
ENST00000613706.5:c.1904A>T ENSP00000484976.2:p.Glu635Val
ENST00000617164.5:c.2255A>T ENSP00000480470.1:p.Glu752Val
ENST00000619009.5:c.773A>T ENSP00000482293.1:p.Glu258Val
ENST00000650978.1:c.3687A>T
ENST00000260947.8:c.2312A>T ENSP00000260947.4:p.Glu771Val
ENST00000432456.5:c.455A>T
ENST00000471590.5:n.647A>T
ENST00000613192.1:c.482A>T ENSP00000483275.1:p.Glu161Val
ENST00000613374.4:c.902A>T ENSP00000484464.1:p.Glu301Val
ENST00000613706.4:c.959A>T ENSP00000484976.1:p.Glu320Val
ENST00000617164.4:c.2255A>T ENSP00000480470.1:p.Glu752Val
ENST00000619009.4:c.773A>T ENSP00000482293.1:p.Glu258Val
ENST00000620057.4:c.*978A>T ENSP00000481988.1:n.*978A>T
NM_000465.3:c.2312A>T NP_000456.2:p.Glu771Val
NM_001282543.1:c.2255A>T NP_001269472.1:p.Glu752Val
NM_001282545.1:c.959A>T NP_001269474.1:p.Glu320Val
NM_001282548.1:c.902A>T NP_001269477.1:p.Glu301Val
NM_001282549.1:c.773A>T NP_001269478.1:p.Glu258Val
NR_104212.1:n.2305A>T
NR_104215.1:n.2248A>T
NR_104216.1:n.1504A>T
XM_011511567.1:c.2258A>T XP_011509869.1:p.Glu753Val
XM_017004613.1:c.2411A>T XP_016860102.1:p.Glu804Val
XR_002959322.1:n.2678A>T
NM_000465.4:c.2312A>T MANE Select NP_000456.2:p.Glu771Val
NM_001282543.2:c.2255A>T NP_001269472.1:p.Glu752Val
NM_001282545.2:c.959A>T NP_001269474.1:p.Glu320Val
NM_001282548.2:c.902A>T NP_001269477.1:p.Glu301Val
NM_001282549.2:c.773A>T NP_001269478.1:p.Glu258Val
NR_104212.2:n.2277A>T
NR_104215.2:n.2220A>T
NR_104216.2:n.1476A>T