Canonical Allele Identifier: CA1327071155
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780920A= , CM000664.2:g.214780920A= GRCh38
NC_000002.11:g.215645644A= , CM000664.1:g.215645644A= GRCh37
NC_000002.10:g.215353889A= NCBI36
NG_012047.2:g.33785T=
NG_012047.3:g.33792T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.954T= MANE Select ENSP00000260947.4:p.Asn318=
ENST00000421162.2:c.215+16141T= ENSP00000392245.2:n.215+16141T=
ENST00000613192.2:c.158+28492T= ENSP00000483275.2:n.158+28492T=
ENST00000613374.5:c.159-28365T= ENSP00000484464.1:n.159-28365T=
ENST00000613706.5:c.906+48T= ENSP00000484976.2:n.906+48T=
ENST00000617164.5:c.897T= ENSP00000480470.1:p.Asn299=
ENST00000619009.5:c.364+11377T= ENSP00000482293.1:n.364+11377T=
ENST00000650978.1:c.796T=
ENST00000260947.8:c.954T= ENSP00000260947.4:p.Asn318=
ENST00000421162.1:c.215+16141T= ENSP00000392245.1:n.215+16141T=
ENST00000455743.5:c.*574T= ENSP00000412186.1:n.*574T=
ENST00000471787.1:n.849T=
ENST00000613192.1:c.73+28492T= ENSP00000483275.1:n.73+28492T=
ENST00000613374.4:c.159-28365T= ENSP00000484464.1:n.159-28365T=
ENST00000613706.4:c.215+16141T= ENSP00000484976.1:n.215+16141T=
ENST00000617164.4:c.897T= ENSP00000480470.1:p.Asn299=
ENST00000619009.4:c.364+11377T= ENSP00000482293.1:n.364+11377T=
ENST00000620057.4:c.364+11377T= ENSP00000481988.1:n.364+11377T=
NM_000465.3:c.954T= NP_000456.2:p.Asn318=
NM_001282543.1:c.897T= NP_001269472.1:p.Asn299=
NM_001282545.1:c.215+16141T= NP_001269474.1:n.215+16141T=
NM_001282548.1:c.159-28365T= NP_001269477.1:n.159-28365T=
NM_001282549.1:c.364+11377T= NP_001269478.1:n.364+11377T=
NR_104212.1:n.947T=
NR_104215.1:n.890T=
NR_104216.1:n.506+11377T=
XM_011511567.1:c.900T= XP_011509869.1:p.Asn300=
XM_011511568.1:c.954T= XP_011509870.1:p.Asn318=
XM_017004613.1:c.1053T= XP_016860102.1:p.Asn351=
XM_017004614.1:c.1053T= XP_016860103.1:p.Asn351=
XR_002959322.1:n.1144T=
NM_000465.4:c.954T= MANE Select NP_000456.2:p.Asn318=
NM_001282543.2:c.897T= NP_001269472.1:p.Asn299=
NM_001282545.2:c.215+16141T= NP_001269474.1:n.215+16141T=
NM_001282548.2:c.159-28365T= NP_001269477.1:n.159-28365T=
NM_001282549.2:c.364+11377T= NP_001269478.1:n.364+11377T=
NR_104212.2:n.919T=
NR_104215.2:n.862T=
NR_104216.2:n.478+11377T=