Canonical Allele Identifier: CA1327045474

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728732A= , CM000664.2:g.214728732A=	GRCh38
NC_000002.11:g.215593456A= , CM000664.1:g.215593456A=	GRCh37
NC_000002.10:g.215301701A=	NCBI36
NG_012047.2:g.85973T=
NG_012047.3:g.85980T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2278T= MANE Select	ENSP00000260947.4:p.Ser760=
ENST00000421162.2:c.925T=	ENSP00000392245.2:p.Ser309=
ENST00000613192.2:c.*341T=	ENSP00000483275.2:n.*341T=
ENST00000613374.5:c.868T=	ENSP00000484464.1:p.Ser290=
ENST00000613706.5:c.1870T=	ENSP00000484976.2:p.Ser624=
ENST00000617164.5:c.2221T=	ENSP00000480470.1:p.Ser741=
ENST00000619009.5:c.739T=	ENSP00000482293.1:p.Ser247=
ENST00000650978.1:c.3653T=
ENST00000260947.8:c.2278T=	ENSP00000260947.4:p.Ser760=
ENST00000432456.5:c.421T=
ENST00000455743.5:c.*1898T=	ENSP00000412186.1:n.*1898T=
ENST00000471590.5:n.613T=
ENST00000613192.1:c.448T=	ENSP00000483275.1:p.Ser150=
ENST00000613374.4:c.868T=	ENSP00000484464.1:p.Ser290=
ENST00000613706.4:c.925T=	ENSP00000484976.1:p.Ser309=
ENST00000617164.4:c.2221T=	ENSP00000480470.1:p.Ser741=
ENST00000619009.4:c.739T=	ENSP00000482293.1:p.Ser247=
ENST00000620057.4:c.*944T=	ENSP00000481988.1:n.*944T=
NM_000465.3:c.2278T=	NP_000456.2:p.Ser760=
NM_001282543.1:c.2221T=	NP_001269472.1:p.Ser741=
NM_001282545.1:c.925T=	NP_001269474.1:p.Ser309=
NM_001282548.1:c.868T=	NP_001269477.1:p.Ser290=
NM_001282549.1:c.739T=	NP_001269478.1:p.Ser247=
NR_104212.1:n.2271T=
NR_104215.1:n.2214T=
NR_104216.1:n.1470T=
XM_011511567.1:c.2224T=	XP_011509869.1:p.Ser742=
XM_017004613.1:c.2377T=	XP_016860102.1:p.Ser793=
XR_002959322.1:n.2644T=
NM_000465.4:c.2278T= MANE Select	NP_000456.2:p.Ser760=
NM_001282543.2:c.2221T=	NP_001269472.1:p.Ser741=
NM_001282545.2:c.925T=	NP_001269474.1:p.Ser309=
NM_001282548.2:c.868T=	NP_001269477.1:p.Ser290=
NM_001282549.2:c.739T=	NP_001269478.1:p.Ser247=
NR_104212.2:n.2243T=
NR_104215.2:n.2186T=
NR_104216.2:n.1442T=