Canonical Allele Identifier: CA1327053366
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745145C= , CM000664.2:g.214745145C= GRCh38
NC_000002.11:g.215609869C= , CM000664.1:g.215609869C= GRCh37
NC_000002.10:g.215318114C= NCBI36
NG_012047.2:g.69560G=
NG_012047.3:g.69567G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1825G= MANE Select ENSP00000260947.4:p.Val609=
ENST00000421162.2:c.472G= ENSP00000392245.2:p.Val158=
ENST00000613192.2:c.159-14637G= ENSP00000483275.2:n.159-14637G=
ENST00000613374.5:c.415G= ENSP00000484464.1:p.Val139=
ENST00000613706.5:c.1417G= ENSP00000484976.2:p.Val473=
ENST00000617164.5:c.1768G= ENSP00000480470.1:p.Val590=
ENST00000619009.5:c.365-14637G= ENSP00000482293.1:n.365-14637G=
ENST00000650978.1:c.3200G=
ENST00000260947.8:c.1825G= ENSP00000260947.4:p.Val609=
ENST00000421162.1:c.472G= ENSP00000392245.1:p.Val158=
ENST00000455743.5:c.*1445G= ENSP00000412186.1:n.*1445G=
ENST00000613192.1:c.74-14637G= ENSP00000483275.1:n.74-14637G=
ENST00000613374.4:c.415G= ENSP00000484464.1:p.Val139=
ENST00000613706.4:c.472G= ENSP00000484976.1:p.Val158=
ENST00000617164.4:c.1768G= ENSP00000480470.1:p.Val590=
ENST00000619009.4:c.365-14637G= ENSP00000482293.1:n.365-14637G=
ENST00000620057.4:c.*491G= ENSP00000481988.1:n.*491G=
NM_000465.3:c.1825G= NP_000456.2:p.Val609=
NM_001282543.1:c.1768G= NP_001269472.1:p.Val590=
NM_001282545.1:c.472G= NP_001269474.1:p.Val158=
NM_001282548.1:c.415G= NP_001269477.1:p.Val139=
NM_001282549.1:c.365-14637G= NP_001269478.1:n.365-14637G=
NR_104212.1:n.1818G=
NR_104215.1:n.1761G=
NR_104216.1:n.1017G=
XM_011511567.1:c.1771G= XP_011509869.1:p.Val591=
XM_011511568.1:c.1825G= XP_011509870.1:p.Val609=
XM_017004613.1:c.1924G= XP_016860102.1:p.Val642=
XM_017004614.1:c.1924G= XP_016860103.1:p.Val642=
XR_002959322.1:n.2015G=
NM_000465.4:c.1825G= MANE Select NP_000456.2:p.Val609=
NM_001282543.2:c.1768G= NP_001269472.1:p.Val590=
NM_001282545.2:c.472G= NP_001269474.1:p.Val158=
NM_001282548.2:c.415G= NP_001269477.1:p.Val139=
NM_001282549.2:c.365-14637G= NP_001269478.1:n.365-14637G=
NR_104212.2:n.1790G=
NR_104215.2:n.1733G=
NR_104216.2:n.989G=