Canonical Allele Identifier: CA1327046405
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730479A= , CM000664.2:g.214730479A= GRCh38
NC_000002.11:g.215595203A= , CM000664.1:g.215595203A= GRCh37
NC_000002.10:g.215303448A= NCBI36
NG_012047.2:g.84226T=
NG_012047.3:g.84233T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1933T= MANE Select ENSP00000260947.4:p.Cys645=
ENST00000421162.2:c.580T= ENSP00000392245.2:p.Cys194=
ENST00000613192.2:c.188T= ENSP00000483275.2:p.Met63=
ENST00000613374.5:c.523T= ENSP00000484464.1:p.Cys175=
ENST00000613706.5:c.1525T= ENSP00000484976.2:p.Cys509=
ENST00000617164.5:c.1876T= ENSP00000480470.1:p.Cys626=
ENST00000619009.5:c.394T= ENSP00000482293.1:p.Cys132=
ENST00000650978.1:c.3308T=
ENST00000260947.8:c.1933T= ENSP00000260947.4:p.Cys645=
ENST00000421162.1:c.580T= ENSP00000392245.1:p.Cys194=
ENST00000432456.5:c.30T=
ENST00000455743.5:c.*1553T= ENSP00000412186.1:n.*1553T=
ENST00000471590.5:n.268T=
ENST00000613192.1:c.103T= ENSP00000483275.1:p.Cys35=
ENST00000613374.4:c.523T= ENSP00000484464.1:p.Cys175=
ENST00000613706.4:c.580T= ENSP00000484976.1:p.Cys194=
ENST00000617164.4:c.1876T= ENSP00000480470.1:p.Cys626=
ENST00000619009.4:c.394T= ENSP00000482293.1:p.Cys132=
ENST00000620057.4:c.*599T= ENSP00000481988.1:n.*599T=
NM_000465.3:c.1933T= NP_000456.2:p.Cys645=
NM_001282543.1:c.1876T= NP_001269472.1:p.Cys626=
NM_001282545.1:c.580T= NP_001269474.1:p.Cys194=
NM_001282548.1:c.523T= NP_001269477.1:p.Cys175=
NM_001282549.1:c.394T= NP_001269478.1:p.Cys132=
NR_104212.1:n.1926T=
NR_104215.1:n.1869T=
NR_104216.1:n.1125T=
XM_011511567.1:c.1879T= XP_011509869.1:p.Cys627=
XM_017004613.1:c.2032T= XP_016860102.1:p.Cys678=
XR_002959322.1:n.2123T=
NM_000465.4:c.1933T= MANE Select NP_000456.2:p.Cys645=
NM_001282543.2:c.1876T= NP_001269472.1:p.Cys626=
NM_001282545.2:c.580T= NP_001269474.1:p.Cys194=
NM_001282548.2:c.523T= NP_001269477.1:p.Cys175=
NM_001282549.2:c.394T= NP_001269478.1:p.Cys132=
NR_104212.2:n.1898T=
NR_104215.2:n.1841T=
NR_104216.2:n.1097T=