Canonical Allele Identifier: CA350449971
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728749T>C , CM000664.2:g.214728749T>C GRCh38
NC_000002.11:g.215593473T>C , CM000664.1:g.215593473T>C GRCh37
NC_000002.10:g.215301718T>C NCBI36
NG_012047.2:g.85956A>G
NG_012047.3:g.85963A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2261A>G MANE Select ENSP00000260947.4:p.Lys754Arg
ENST00000421162.2:c.908A>G ENSP00000392245.2:p.Lys303Arg
ENST00000613192.2:c.*324A>G ENSP00000483275.2:n.*324A>G
ENST00000613374.5:c.851A>G ENSP00000484464.1:p.Lys284Arg
ENST00000613706.5:c.1853A>G ENSP00000484976.2:p.Lys618Arg
ENST00000617164.5:c.2204A>G ENSP00000480470.1:p.Lys735Arg
ENST00000619009.5:c.722A>G ENSP00000482293.1:p.Lys241Arg
ENST00000650978.1:c.3636A>G
ENST00000260947.8:c.2261A>G ENSP00000260947.4:p.Lys754Arg
ENST00000432456.5:c.404A>G
ENST00000455743.5:c.*1881A>G ENSP00000412186.1:n.*1881A>G
ENST00000471590.5:n.596A>G
ENST00000613192.1:c.431A>G ENSP00000483275.1:p.Lys144Arg
ENST00000613374.4:c.851A>G ENSP00000484464.1:p.Lys284Arg
ENST00000613706.4:c.908A>G ENSP00000484976.1:p.Lys303Arg
ENST00000617164.4:c.2204A>G ENSP00000480470.1:p.Lys735Arg
ENST00000619009.4:c.722A>G ENSP00000482293.1:p.Lys241Arg
ENST00000620057.4:c.*927A>G ENSP00000481988.1:n.*927A>G
NM_000465.3:c.2261A>G NP_000456.2:p.Lys754Arg
NM_001282543.1:c.2204A>G NP_001269472.1:p.Lys735Arg
NM_001282545.1:c.908A>G NP_001269474.1:p.Lys303Arg
NM_001282548.1:c.851A>G NP_001269477.1:p.Lys284Arg
NM_001282549.1:c.722A>G NP_001269478.1:p.Lys241Arg
NR_104212.1:n.2254A>G
NR_104215.1:n.2197A>G
NR_104216.1:n.1453A>G
XM_011511567.1:c.2207A>G XP_011509869.1:p.Lys736Arg
XM_017004613.1:c.2360A>G XP_016860102.1:p.Lys787Arg
XR_002959322.1:n.2627A>G
NM_000465.4:c.2261A>G MANE Select NP_000456.2:p.Lys754Arg
NM_001282543.2:c.2204A>G NP_001269472.1:p.Lys735Arg
NM_001282545.2:c.908A>G NP_001269474.1:p.Lys303Arg
NM_001282548.2:c.851A>G NP_001269477.1:p.Lys284Arg
NM_001282549.2:c.722A>G NP_001269478.1:p.Lys241Arg
NR_104212.2:n.2226A>G
NR_104215.2:n.2169A>G
NR_104216.2:n.1425A>G