Canonical Allele Identifier: CA1327053726
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745842G= , CM000664.2:g.214745842G= GRCh38
NC_000002.11:g.215610566G= , CM000664.1:g.215610566G= GRCh37
NC_000002.10:g.215318811G= NCBI36
NG_012047.2:g.68863C=
NG_012047.3:g.68870C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1690C= MANE Select ENSP00000260947.4:p.Gln564=
ENST00000421162.2:c.337C= ENSP00000392245.2:p.Gln113=
ENST00000613192.2:c.159-15334C= ENSP00000483275.2:n.159-15334C=
ENST00000613374.5:c.280C= ENSP00000484464.1:p.Gln94=
ENST00000613706.5:c.1282C= ENSP00000484976.2:p.Gln428=
ENST00000617164.5:c.1633C= ENSP00000480470.1:p.Gln545=
ENST00000619009.5:c.365-15334C= ENSP00000482293.1:n.365-15334C=
ENST00000650978.1:c.3065C=
ENST00000260947.8:c.1690C= ENSP00000260947.4:p.Gln564=
ENST00000421162.1:c.337C= ENSP00000392245.1:p.Gln113=
ENST00000455743.5:c.*1310C= ENSP00000412186.1:n.*1310C=
ENST00000465841.1:n.45C=
ENST00000613192.1:c.74-15334C= ENSP00000483275.1:n.74-15334C=
ENST00000613374.4:c.280C= ENSP00000484464.1:p.Gln94=
ENST00000613706.4:c.337C= ENSP00000484976.1:p.Gln113=
ENST00000617164.4:c.1633C= ENSP00000480470.1:p.Gln545=
ENST00000619009.4:c.365-15334C= ENSP00000482293.1:n.365-15334C=
ENST00000620057.4:c.*356C= ENSP00000481988.1:n.*356C=
NM_000465.3:c.1690C= NP_000456.2:p.Gln564=
NM_001282543.1:c.1633C= NP_001269472.1:p.Gln545=
NM_001282545.1:c.337C= NP_001269474.1:p.Gln113=
NM_001282548.1:c.280C= NP_001269477.1:p.Gln94=
NM_001282549.1:c.365-15334C= NP_001269478.1:n.365-15334C=
NR_104212.1:n.1683C=
NR_104215.1:n.1626C=
NR_104216.1:n.882C=
XM_011511567.1:c.1636C= XP_011509869.1:p.Gln546=
XM_011511568.1:c.1690C= XP_011509870.1:p.Gln564=
XM_017004613.1:c.1789C= XP_016860102.1:p.Gln597=
XM_017004614.1:c.1789C= XP_016860103.1:p.Gln597=
XR_002959322.1:n.1880C=
NM_000465.4:c.1690C= MANE Select NP_000456.2:p.Gln564=
NM_001282543.2:c.1633C= NP_001269472.1:p.Gln545=
NM_001282545.2:c.337C= NP_001269474.1:p.Gln113=
NM_001282548.2:c.280C= NP_001269477.1:p.Gln94=
NM_001282549.2:c.365-15334C= NP_001269478.1:n.365-15334C=
NR_104212.2:n.1655C=
NR_104215.2:n.1598C=
NR_104216.2:n.854C=