Canonical Allele Identifier: CA1327071317
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781151G= , CM000664.2:g.214781151G= GRCh38
NC_000002.11:g.215645875G= , CM000664.1:g.215645875G= GRCh37
NC_000002.10:g.215354120G= NCBI36
NG_012047.2:g.33554C=
NG_012047.3:g.33561C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.723C= MANE Select ENSP00000260947.4:p.Ser241=
ENST00000421162.2:c.215+15910C= ENSP00000392245.2:n.215+15910C=
ENST00000613192.2:c.158+28261C= ENSP00000483275.2:n.158+28261C=
ENST00000613374.5:c.158+28261C= ENSP00000484464.1:n.158+28261C=
ENST00000613706.5:c.723C= ENSP00000484976.2:p.Ser241=
ENST00000617164.5:c.666C= ENSP00000480470.1:p.Ser222=
ENST00000619009.5:c.364+11146C= ENSP00000482293.1:n.364+11146C=
ENST00000650978.1:c.565C=
ENST00000260947.8:c.723C= ENSP00000260947.4:p.Ser241=
ENST00000421162.1:c.215+15910C= ENSP00000392245.1:n.215+15910C=
ENST00000455743.5:c.*343C= ENSP00000412186.1:n.*343C=
ENST00000471787.1:n.618C=
ENST00000613192.1:c.73+28261C= ENSP00000483275.1:n.73+28261C=
ENST00000613374.4:c.158+28261C= ENSP00000484464.1:n.158+28261C=
ENST00000613706.4:c.215+15910C= ENSP00000484976.1:n.215+15910C=
ENST00000617164.4:c.666C= ENSP00000480470.1:p.Ser222=
ENST00000619009.4:c.364+11146C= ENSP00000482293.1:n.364+11146C=
ENST00000620057.4:c.364+11146C= ENSP00000481988.1:n.364+11146C=
NM_000465.3:c.723C= NP_000456.2:p.Ser241=
NM_001282543.1:c.666C= NP_001269472.1:p.Ser222=
NM_001282545.1:c.215+15910C= NP_001269474.1:n.215+15910C=
NM_001282548.1:c.158+28261C= NP_001269477.1:n.158+28261C=
NM_001282549.1:c.364+11146C= NP_001269478.1:n.364+11146C=
NR_104212.1:n.716C=
NR_104215.1:n.659C=
NR_104216.1:n.506+11146C=
XM_011511567.1:c.669C= XP_011509869.1:p.Ser223=
XM_011511568.1:c.723C= XP_011509870.1:p.Ser241=
XM_017004613.1:c.822C= XP_016860102.1:p.Ser274=
XM_017004614.1:c.822C= XP_016860103.1:p.Ser274=
XR_002959322.1:n.913C=
NM_000465.4:c.723C= MANE Select NP_000456.2:p.Ser241=
NM_001282543.2:c.666C= NP_001269472.1:p.Ser222=
NM_001282545.2:c.215+15910C= NP_001269474.1:n.215+15910C=
NM_001282548.2:c.158+28261C= NP_001269477.1:n.158+28261C=
NM_001282549.2:c.364+11146C= NP_001269478.1:n.364+11146C=
NR_104212.2:n.688C=
NR_104215.2:n.631C=
NR_104216.2:n.478+11146C=