Canonical Allele Identifier: CA293921
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 136496
dbSNP Id: rs28997574

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781265T>G , CM000664.2:g.214781265T>G GRCh38
NC_000002.11:g.215645989T>G , CM000664.1:g.215645989T>G GRCh37
NC_000002.10:g.215354234T>G NCBI36
NG_012047.2:g.33440A>C
NG_012047.3:g.33447A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.609A>C MANE Select ENSP00000260947.4:p.Gly203=
ENST00000421162.2:c.215+15796A>C ENSP00000392245.2:n.215+15796A>C
ENST00000613192.2:c.158+28147A>C ENSP00000483275.2:n.158+28147A>C
ENST00000613374.5:c.158+28147A>C ENSP00000484464.1:n.158+28147A>C
ENST00000613706.5:c.609A>C ENSP00000484976.2:p.Gly203=
ENST00000617164.5:c.552A>C ENSP00000480470.1:p.Gly184=
ENST00000619009.5:c.364+11032A>C ENSP00000482293.1:n.364+11032A>C
ENST00000650978.1:c.451A>C
ENST00000260947.8:c.609A>C ENSP00000260947.4:p.Gly203=
ENST00000421162.1:c.215+15796A>C ENSP00000392245.1:n.215+15796A>C
ENST00000455743.5:c.*229A>C ENSP00000412186.1:n.*229A>C
ENST00000471787.1:n.504A>C
ENST00000613192.1:c.73+28147A>C ENSP00000483275.1:n.73+28147A>C
ENST00000613374.4:c.158+28147A>C ENSP00000484464.1:n.158+28147A>C
ENST00000613706.4:c.215+15796A>C ENSP00000484976.1:n.215+15796A>C
ENST00000617164.4:c.552A>C ENSP00000480470.1:p.Gly184=
ENST00000619009.4:c.364+11032A>C ENSP00000482293.1:n.364+11032A>C
ENST00000620057.4:c.364+11032A>C ENSP00000481988.1:n.364+11032A>C
NM_000465.3:c.609A>C NP_000456.2:p.Gly203=
NM_001282543.1:c.552A>C NP_001269472.1:p.Gly184=
NM_001282545.1:c.215+15796A>C NP_001269474.1:n.215+15796A>C
NM_001282548.1:c.158+28147A>C NP_001269477.1:n.158+28147A>C
NM_001282549.1:c.364+11032A>C NP_001269478.1:n.364+11032A>C
NR_104212.1:n.602A>C
NR_104215.1:n.545A>C
NR_104216.1:n.506+11032A>C
XM_011511567.1:c.555A>C XP_011509869.1:p.Gly185=
XM_011511568.1:c.609A>C XP_011509870.1:p.Gly203=
XM_017004613.1:c.708A>C XP_016860102.1:p.Gly236=
XM_017004614.1:c.708A>C XP_016860103.1:p.Gly236=
XR_002959322.1:n.799A>C
NM_000465.4:c.609A>C MANE Select NP_000456.2:p.Gly203=
NM_001282543.2:c.552A>C NP_001269472.1:p.Gly184=
NM_001282545.2:c.215+15796A>C NP_001269474.1:n.215+15796A>C
NM_001282548.2:c.158+28147A>C NP_001269477.1:n.158+28147A>C
NM_001282549.2:c.364+11032A>C NP_001269478.1:n.364+11032A>C
NR_104212.2:n.574A>C
NR_104215.2:n.517A>C
NR_104216.2:n.478+11032A>C