Canonical Allele Identifier: CA2090545
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 334200
dbSNP Id: rs17489363

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809617A>G , CM000664.2:g.214809617A>G GRCh38
NC_000002.11:g.215674341A>G , CM000664.1:g.215674341A>G GRCh37
NC_000002.10:g.215382586A>G NCBI36
NG_012047.2:g.5088T>C
NG_012047.3:g.5095T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.-48T>C MANE Select ENSP00000260947.4:p.=
ENST00000613192.2:c.-48T>C ENSP00000483275.2:p.=
ENST00000613374.5:c.-48T>C ENSP00000484464.1:p.=
ENST00000613706.5:c.-48T>C ENSP00000484976.2:p.=
ENST00000617164.5:c.-48T>C ENSP00000480470.1:p.=
ENST00000260947.8:c.-48T>C ENSP00000260947.4:p.=
ENST00000421162.1:c.-48T>C ENSP00000392245.1:p.=
ENST00000455743.5:c.-48T>C ENSP00000412186.1:p.=
ENST00000471787.1:n.54T>C
ENST00000479904.1:n.44T>C
ENST00000613192.1:c.-133T>C ENSP00000483275.1:p.=
ENST00000613374.4:c.-48T>C ENSP00000484464.1:p.=
ENST00000613706.4:c.-48T>C ENSP00000484976.1:p.=
ENST00000617164.4:c.-48T>C ENSP00000480470.1:p.=
ENST00000619009.4:c.-48T>C ENSP00000482293.1:p.=
ENST00000620057.4:c.-48T>C ENSP00000481988.1:p.=
NM_000465.3:c.-48T>C NP_000456.2:p.=
NM_001282543.1:c.-48T>C NP_001269472.1:p.=
NM_001282545.1:c.-48T>C NP_001269474.1:p.=
NM_001282548.1:c.-48T>C NP_001269477.1:p.=
NM_001282549.1:c.-48T>C NP_001269478.1:p.=
NR_104212.1:n.95T>C
NR_104215.1:n.95T>C
NR_104216.1:n.95T>C
XM_011511568.1:c.-48T>C XP_011509870.1:p.=
XM_017004613.1:c.-48T>C XP_016860102.1:p.=
XM_017004614.1:c.-48T>C XP_016860103.1:p.=
XR_002959322.1:n.44T>C
NM_000465.4:c.-48T>C MANE Select NP_000456.2:p.=
NM_001282543.2:c.-48T>C NP_001269472.1:p.=
NM_001282545.2:c.-48T>C NP_001269474.1:p.=
NM_001282548.2:c.-48T>C NP_001269477.1:p.=
NM_001282549.2:c.-48T>C NP_001269478.1:p.=
NR_104212.2:n.67T>C
NR_104215.2:n.67T>C
NR_104216.2:n.67T>C