Canonical Allele Identifier: CA1327045514
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728775A= , CM000664.2:g.214728775A= GRCh38
NC_000002.11:g.215593499A= , CM000664.1:g.215593499A= GRCh37
NC_000002.10:g.215301744A= NCBI36
NG_012047.2:g.85930T=
NG_012047.3:g.85937T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2235T= MANE Select ENSP00000260947.4:p.Tyr745=
ENST00000421162.2:c.882T= ENSP00000392245.2:p.Tyr294=
ENST00000613192.2:c.*298T= ENSP00000483275.2:n.*298T=
ENST00000613374.5:c.825T= ENSP00000484464.1:p.Tyr275=
ENST00000613706.5:c.1827T= ENSP00000484976.2:p.Tyr609=
ENST00000617164.5:c.2178T= ENSP00000480470.1:p.Tyr726=
ENST00000619009.5:c.696T= ENSP00000482293.1:p.Tyr232=
ENST00000650978.1:c.3610T=
ENST00000260947.8:c.2235T= ENSP00000260947.4:p.Tyr745=
ENST00000432456.5:c.378T=
ENST00000455743.5:c.*1855T= ENSP00000412186.1:n.*1855T=
ENST00000471590.5:n.570T=
ENST00000613192.1:c.405T= ENSP00000483275.1:p.Tyr135=
ENST00000613374.4:c.825T= ENSP00000484464.1:p.Tyr275=
ENST00000613706.4:c.882T= ENSP00000484976.1:p.Tyr294=
ENST00000617164.4:c.2178T= ENSP00000480470.1:p.Tyr726=
ENST00000619009.4:c.696T= ENSP00000482293.1:p.Tyr232=
ENST00000620057.4:c.*901T= ENSP00000481988.1:n.*901T=
NM_000465.3:c.2235T= NP_000456.2:p.Tyr745=
NM_001282543.1:c.2178T= NP_001269472.1:p.Tyr726=
NM_001282545.1:c.882T= NP_001269474.1:p.Tyr294=
NM_001282548.1:c.825T= NP_001269477.1:p.Tyr275=
NM_001282549.1:c.696T= NP_001269478.1:p.Tyr232=
NR_104212.1:n.2228T=
NR_104215.1:n.2171T=
NR_104216.1:n.1427T=
XM_011511567.1:c.2181T= XP_011509869.1:p.Tyr727=
XM_017004613.1:c.2334T= XP_016860102.1:p.Tyr778=
XR_002959322.1:n.2601T=
NM_000465.4:c.2235T= MANE Select NP_000456.2:p.Tyr745=
NM_001282543.2:c.2178T= NP_001269472.1:p.Tyr726=
NM_001282545.2:c.882T= NP_001269474.1:p.Tyr294=
NM_001282548.2:c.825T= NP_001269477.1:p.Tyr275=
NM_001282549.2:c.696T= NP_001269478.1:p.Tyr232=
NR_104212.2:n.2200T=
NR_104215.2:n.2143T=
NR_104216.2:n.1399T=