Canonical Allele Identifier: CA350454748
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628289
ClinVar RCV Id: RCV000772705
dbSNP Id: rs996675923

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780918T>C , CM000664.2:g.214780918T>C GRCh38
NC_000002.11:g.215645642T>C , CM000664.1:g.215645642T>C GRCh37
NC_000002.10:g.215353887T>C NCBI36
NG_012047.2:g.33787A>G
NG_012047.3:g.33794A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.956A>G MANE Select ENSP00000260947.4:p.Asn319Ser
ENST00000421162.2:c.215+16143A>G ENSP00000392245.2:n.215+16143A>G
ENST00000613192.2:c.158+28494A>G ENSP00000483275.2:n.158+28494A>G
ENST00000613374.5:c.159-28363A>G ENSP00000484464.1:n.159-28363A>G
ENST00000613706.5:c.906+50A>G ENSP00000484976.2:n.906+50A>G
ENST00000617164.5:c.899A>G ENSP00000480470.1:p.Asn300Ser
ENST00000619009.5:c.364+11379A>G ENSP00000482293.1:n.364+11379A>G
ENST00000650978.1:c.798A>G
ENST00000260947.8:c.956A>G ENSP00000260947.4:p.Asn319Ser
ENST00000421162.1:c.215+16143A>G ENSP00000392245.1:n.215+16143A>G
ENST00000455743.5:c.*576A>G ENSP00000412186.1:n.*576A>G
ENST00000471787.1:n.851A>G
ENST00000613192.1:c.73+28494A>G ENSP00000483275.1:n.73+28494A>G
ENST00000613374.4:c.159-28363A>G ENSP00000484464.1:n.159-28363A>G
ENST00000613706.4:c.215+16143A>G ENSP00000484976.1:n.215+16143A>G
ENST00000617164.4:c.899A>G ENSP00000480470.1:p.Asn300Ser
ENST00000619009.4:c.364+11379A>G ENSP00000482293.1:n.364+11379A>G
ENST00000620057.4:c.364+11379A>G ENSP00000481988.1:n.364+11379A>G
NM_000465.3:c.956A>G NP_000456.2:p.Asn319Ser
NM_001282543.1:c.899A>G NP_001269472.1:p.Asn300Ser
NM_001282545.1:c.215+16143A>G NP_001269474.1:n.215+16143A>G
NM_001282548.1:c.159-28363A>G NP_001269477.1:n.159-28363A>G
NM_001282549.1:c.364+11379A>G NP_001269478.1:n.364+11379A>G
NR_104212.1:n.949A>G
NR_104215.1:n.892A>G
NR_104216.1:n.506+11379A>G
XM_011511567.1:c.902A>G XP_011509869.1:p.Asn301Ser
XM_011511568.1:c.956A>G XP_011509870.1:p.Asn319Ser
XM_017004613.1:c.1055A>G XP_016860102.1:p.Asn352Ser
XM_017004614.1:c.1055A>G XP_016860103.1:p.Asn352Ser
XR_002959322.1:n.1146A>G
NM_000465.4:c.956A>G MANE Select NP_000456.2:p.Asn319Ser
NM_001282543.2:c.899A>G NP_001269472.1:p.Asn300Ser
NM_001282545.2:c.215+16143A>G NP_001269474.1:n.215+16143A>G
NM_001282548.2:c.159-28363A>G NP_001269477.1:n.159-28363A>G
NM_001282549.2:c.364+11379A>G NP_001269478.1:n.364+11379A>G
NR_104212.2:n.921A>G
NR_104215.2:n.864A>G
NR_104216.2:n.478+11379A>G