Canonical Allele Identifier: CA350461230
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792414A>C , CM000664.2:g.214792414A>C GRCh38
NC_000002.11:g.215657138A>C , CM000664.1:g.215657138A>C GRCh37
NC_000002.10:g.215365383A>C NCBI36
NG_012047.2:g.22291T>G
NG_012047.3:g.22298T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.247T>G MANE Select ENSP00000260947.4:p.Cys83Gly
ENST00000421162.2:c.215+4647T>G ENSP00000392245.2:p.=
ENST00000613192.2:c.158+16998T>G ENSP00000483275.2:p.=
ENST00000613374.5:c.158+16998T>G ENSP00000484464.1:p.=
ENST00000613706.5:c.247T>G ENSP00000484976.2:p.Cys83Gly
ENST00000617164.5:c.190T>G ENSP00000480470.1:p.Cys64Gly
ENST00000619009.5:c.247T>G ENSP00000482293.1:p.Cys83Gly
ENST00000650978.1:n.89T>G
ENST00000260947.8:c.247T>G ENSP00000260947.4:p.Cys83Gly
ENST00000421162.1:c.215+4647T>G ENSP00000392245.1:p.=
ENST00000455743.5:c.215+4647T>G ENSP00000412186.1:p.=
ENST00000471787.1:n.260-10905T>G
ENST00000613192.1:c.73+16998T>G ENSP00000483275.1:p.=
ENST00000613374.4:c.158+16998T>G ENSP00000484464.1:p.=
ENST00000613706.4:c.215+4647T>G ENSP00000484976.1:p.=
ENST00000617164.4:c.190T>G ENSP00000480470.1:p.Cys64Gly
ENST00000619009.4:c.247T>G ENSP00000482293.1:p.Cys83Gly
ENST00000620057.4:c.247T>G ENSP00000481988.1:p.Cys83Gly
NM_000465.3:c.247T>G NP_000456.2:p.Cys83Gly
NM_001282543.1:c.190T>G NP_001269472.1:p.Cys64Gly
NM_001282545.1:c.215+4647T>G NP_001269474.1:p.=
NM_001282548.1:c.158+16998T>G NP_001269477.1:p.=
NM_001282549.1:c.247T>G NP_001269478.1:p.Cys83Gly
NR_104212.1:n.357+4647T>G
NR_104215.1:n.301-10905T>G
NR_104216.1:n.389T>G
XM_011511567.1:c.193T>G XP_011509869.1:p.Cys65Gly
XM_011511568.1:c.247T>G XP_011509870.1:p.Cys83Gly
XM_017004613.1:c.346T>G XP_016860102.1:p.Cys116Gly
XM_017004614.1:c.346T>G XP_016860103.1:p.Cys116Gly
XR_002959322.1:n.437T>G
NM_000465.4:c.247T>G MANE Select NP_000456.2:p.Cys83Gly
NM_001282543.2:c.190T>G NP_001269472.1:p.Cys64Gly
NM_001282545.2:c.215+4647T>G NP_001269474.1:p.=
NM_001282548.2:c.158+16998T>G NP_001269477.1:p.=
NM_001282549.2:c.247T>G NP_001269478.1:p.Cys83Gly
NR_104212.2:n.329+4647T>G
NR_104215.2:n.273-10905T>G
NR_104216.2:n.361T>G