Canonical Allele Identifier: CA287520

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745838C>T , CM000664.2:g.214745838C>T	GRCh38
NC_000002.11:g.215610562C>T , CM000664.1:g.215610562C>T	GRCh37
NC_000002.10:g.215318807C>T	NCBI36
NG_012047.2:g.68867G>A
NG_012047.3:g.68874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1694G>A MANE Select	ENSP00000260947.4:p.Arg565His
ENST00000421162.2:c.341G>A	ENSP00000392245.2:p.Arg114His
ENST00000613192.2:c.159-15330G>A	ENSP00000483275.2:n.159-15330G>A
ENST00000613374.5:c.284G>A	ENSP00000484464.1:p.Arg95His
ENST00000613706.5:c.1286G>A	ENSP00000484976.2:p.Arg429His
ENST00000617164.5:c.1637G>A	ENSP00000480470.1:p.Arg546His
ENST00000619009.5:c.365-15330G>A	ENSP00000482293.1:n.365-15330G>A
ENST00000650978.1:c.3069G>A
ENST00000260947.8:c.1694G>A	ENSP00000260947.4:p.Arg565His
ENST00000421162.1:c.341G>A	ENSP00000392245.1:p.Arg114His
ENST00000455743.5:c.*1314G>A	ENSP00000412186.1:n.*1314G>A
ENST00000465841.1:n.49G>A
ENST00000613192.1:c.74-15330G>A	ENSP00000483275.1:n.74-15330G>A
ENST00000613374.4:c.284G>A	ENSP00000484464.1:p.Arg95His
ENST00000613706.4:c.341G>A	ENSP00000484976.1:p.Arg114His
ENST00000617164.4:c.1637G>A	ENSP00000480470.1:p.Arg546His
ENST00000619009.4:c.365-15330G>A	ENSP00000482293.1:n.365-15330G>A
ENST00000620057.4:c.*360G>A	ENSP00000481988.1:n.*360G>A
NM_000465.3:c.1694G>A	NP_000456.2:p.Arg565His
NM_001282543.1:c.1637G>A	NP_001269472.1:p.Arg546His
NM_001282545.1:c.341G>A	NP_001269474.1:p.Arg114His
NM_001282548.1:c.284G>A	NP_001269477.1:p.Arg95His
NM_001282549.1:c.365-15330G>A	NP_001269478.1:n.365-15330G>A
NR_104212.1:n.1687G>A
NR_104215.1:n.1630G>A
NR_104216.1:n.886G>A
XM_011511567.1:c.1640G>A	XP_011509869.1:p.Arg547His
XM_011511568.1:c.1694G>A	XP_011509870.1:p.Arg565His
XM_017004613.1:c.1793G>A	XP_016860102.1:p.Arg598His
XM_017004614.1:c.1793G>A	XP_016860103.1:p.Arg598His
XR_002959322.1:n.1884G>A
NM_000465.4:c.1694G>A MANE Select	NP_000456.2:p.Arg565His
NM_001282543.2:c.1637G>A	NP_001269472.1:p.Arg546His
NM_001282545.2:c.341G>A	NP_001269474.1:p.Arg114His
NM_001282548.2:c.284G>A	NP_001269477.1:p.Arg95His
NM_001282549.2:c.365-15330G>A	NP_001269478.1:n.365-15330G>A
NR_104212.2:n.1659G>A
NR_104215.2:n.1602G>A
NR_104216.2:n.858G>A