Canonical Allele Identifier: CA1327045516
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728777A= , CM000664.2:g.214728777A= GRCh38
NC_000002.11:g.215593501A= , CM000664.1:g.215593501A= GRCh37
NC_000002.10:g.215301746A= NCBI36
NG_012047.2:g.85928T=
NG_012047.3:g.85935T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2233T= MANE Select ENSP00000260947.4:p.Tyr745=
ENST00000421162.2:c.880T= ENSP00000392245.2:p.Tyr294=
ENST00000613192.2:c.*296T= ENSP00000483275.2:n.*296T=
ENST00000613374.5:c.823T= ENSP00000484464.1:p.Tyr275=
ENST00000613706.5:c.1825T= ENSP00000484976.2:p.Tyr609=
ENST00000617164.5:c.2176T= ENSP00000480470.1:p.Tyr726=
ENST00000619009.5:c.694T= ENSP00000482293.1:p.Tyr232=
ENST00000650978.1:c.3608T=
ENST00000260947.8:c.2233T= ENSP00000260947.4:p.Tyr745=
ENST00000432456.5:c.376T=
ENST00000455743.5:c.*1853T= ENSP00000412186.1:n.*1853T=
ENST00000471590.5:n.568T=
ENST00000613192.1:c.403T= ENSP00000483275.1:p.Tyr135=
ENST00000613374.4:c.823T= ENSP00000484464.1:p.Tyr275=
ENST00000613706.4:c.880T= ENSP00000484976.1:p.Tyr294=
ENST00000617164.4:c.2176T= ENSP00000480470.1:p.Tyr726=
ENST00000619009.4:c.694T= ENSP00000482293.1:p.Tyr232=
ENST00000620057.4:c.*899T= ENSP00000481988.1:n.*899T=
NM_000465.3:c.2233T= NP_000456.2:p.Tyr745=
NM_001282543.1:c.2176T= NP_001269472.1:p.Tyr726=
NM_001282545.1:c.880T= NP_001269474.1:p.Tyr294=
NM_001282548.1:c.823T= NP_001269477.1:p.Tyr275=
NM_001282549.1:c.694T= NP_001269478.1:p.Tyr232=
NR_104212.1:n.2226T=
NR_104215.1:n.2169T=
NR_104216.1:n.1425T=
XM_011511567.1:c.2179T= XP_011509869.1:p.Tyr727=
XM_017004613.1:c.2332T= XP_016860102.1:p.Tyr778=
XR_002959322.1:n.2599T=
NM_000465.4:c.2233T= MANE Select NP_000456.2:p.Tyr745=
NM_001282543.2:c.2176T= NP_001269472.1:p.Tyr726=
NM_001282545.2:c.880T= NP_001269474.1:p.Tyr294=
NM_001282548.2:c.823T= NP_001269477.1:p.Tyr275=
NM_001282549.2:c.694T= NP_001269478.1:p.Tyr232=
NR_104212.2:n.2198T=
NR_104215.2:n.2141T=
NR_104216.2:n.1397T=