Canonical Allele Identifier: CA350450106
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728783A>C , CM000664.2:g.214728783A>C GRCh38
NC_000002.11:g.215593507A>C , CM000664.1:g.215593507A>C GRCh37
NC_000002.10:g.215301752A>C NCBI36
NG_012047.2:g.85922T>G
NG_012047.3:g.85929T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2227T>G MANE Select ENSP00000260947.4:p.Cys743Gly
ENST00000421162.2:c.874T>G ENSP00000392245.2:p.Cys292Gly
ENST00000613192.2:c.*290T>G ENSP00000483275.2:n.*290T>G
ENST00000613374.5:c.817T>G ENSP00000484464.1:p.Cys273Gly
ENST00000613706.5:c.1819T>G ENSP00000484976.2:p.Cys607Gly
ENST00000617164.5:c.2170T>G ENSP00000480470.1:p.Cys724Gly
ENST00000619009.5:c.688T>G ENSP00000482293.1:p.Cys230Gly
ENST00000650978.1:c.3602T>G
ENST00000260947.8:c.2227T>G ENSP00000260947.4:p.Cys743Gly
ENST00000432456.5:c.370T>G
ENST00000455743.5:c.*1847T>G ENSP00000412186.1:n.*1847T>G
ENST00000471590.5:n.562T>G
ENST00000613192.1:c.397T>G ENSP00000483275.1:p.Cys133Gly
ENST00000613374.4:c.817T>G ENSP00000484464.1:p.Cys273Gly
ENST00000613706.4:c.874T>G ENSP00000484976.1:p.Cys292Gly
ENST00000617164.4:c.2170T>G ENSP00000480470.1:p.Cys724Gly
ENST00000619009.4:c.688T>G ENSP00000482293.1:p.Cys230Gly
ENST00000620057.4:c.*893T>G ENSP00000481988.1:n.*893T>G
NM_000465.3:c.2227T>G NP_000456.2:p.Cys743Gly
NM_001282543.1:c.2170T>G NP_001269472.1:p.Cys724Gly
NM_001282545.1:c.874T>G NP_001269474.1:p.Cys292Gly
NM_001282548.1:c.817T>G NP_001269477.1:p.Cys273Gly
NM_001282549.1:c.688T>G NP_001269478.1:p.Cys230Gly
NR_104212.1:n.2220T>G
NR_104215.1:n.2163T>G
NR_104216.1:n.1419T>G
XM_011511567.1:c.2173T>G XP_011509869.1:p.Cys725Gly
XM_017004613.1:c.2326T>G XP_016860102.1:p.Cys776Gly
XR_002959322.1:n.2593T>G
NM_000465.4:c.2227T>G MANE Select NP_000456.2:p.Cys743Gly
NM_001282543.2:c.2170T>G NP_001269472.1:p.Cys724Gly
NM_001282545.2:c.874T>G NP_001269474.1:p.Cys292Gly
NM_001282548.2:c.817T>G NP_001269477.1:p.Cys273Gly
NM_001282549.2:c.688T>G NP_001269478.1:p.Cys230Gly
NR_104212.2:n.2192T>G
NR_104215.2:n.2135T>G
NR_104216.2:n.1391T>G