Canonical Allele Identifier: CA1327071059
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780783G= , CM000664.2:g.214780783G= GRCh38
NC_000002.11:g.215645507G= , CM000664.1:g.215645507G= GRCh37
NC_000002.10:g.215353752G= NCBI36
NG_012047.2:g.33922C=
NG_012047.3:g.33929C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1091C= MANE Select ENSP00000260947.4:p.Ser364=
ENST00000421162.2:c.215+16278C= ENSP00000392245.2:n.215+16278C=
ENST00000613192.2:c.158+28629C= ENSP00000483275.2:n.158+28629C=
ENST00000613374.5:c.159-28228C= ENSP00000484464.1:n.159-28228C=
ENST00000613706.5:c.906+185C= ENSP00000484976.2:n.906+185C=
ENST00000617164.5:c.1034C= ENSP00000480470.1:p.Ser345=
ENST00000619009.5:c.364+11514C= ENSP00000482293.1:n.364+11514C=
ENST00000650978.1:c.933C=
ENST00000260947.8:c.1091C= ENSP00000260947.4:p.Ser364=
ENST00000421162.1:c.215+16278C= ENSP00000392245.1:n.215+16278C=
ENST00000455743.5:c.*711C= ENSP00000412186.1:n.*711C=
ENST00000613192.1:c.73+28629C= ENSP00000483275.1:n.73+28629C=
ENST00000613374.4:c.159-28228C= ENSP00000484464.1:n.159-28228C=
ENST00000613706.4:c.215+16278C= ENSP00000484976.1:n.215+16278C=
ENST00000617164.4:c.1034C= ENSP00000480470.1:p.Ser345=
ENST00000619009.4:c.364+11514C= ENSP00000482293.1:n.364+11514C=
ENST00000620057.4:c.365-11471C= ENSP00000481988.1:n.365-11471C=
NM_000465.3:c.1091C= NP_000456.2:p.Ser364=
NM_001282543.1:c.1034C= NP_001269472.1:p.Ser345=
NM_001282545.1:c.215+16278C= NP_001269474.1:n.215+16278C=
NM_001282548.1:c.159-28228C= NP_001269477.1:n.159-28228C=
NM_001282549.1:c.364+11514C= NP_001269478.1:n.364+11514C=
NR_104212.1:n.1084C=
NR_104215.1:n.1027C=
NR_104216.1:n.507-11471C=
XM_011511567.1:c.1037C= XP_011509869.1:p.Ser346=
XM_011511568.1:c.1091C= XP_011509870.1:p.Ser364=
XM_017004613.1:c.1190C= XP_016860102.1:p.Ser397=
XM_017004614.1:c.1190C= XP_016860103.1:p.Ser397=
XR_002959322.1:n.1281C=
NM_000465.4:c.1091C= MANE Select NP_000456.2:p.Ser364=
NM_001282543.2:c.1034C= NP_001269472.1:p.Ser345=
NM_001282545.2:c.215+16278C= NP_001269474.1:n.215+16278C=
NM_001282548.2:c.159-28228C= NP_001269477.1:n.159-28228C=
NM_001282549.2:c.364+11514C= NP_001269478.1:n.364+11514C=
NR_104212.2:n.1056C=
NR_104215.2:n.999C=
NR_104216.2:n.479-11471C=