Canonical Allele Identifier: CA539537359
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745019C>T , CM000664.2:g.214745019C>T GRCh38
NC_000002.11:g.215609743C>T , CM000664.1:g.215609743C>T GRCh37
NC_000002.10:g.215317988C>T NCBI36
NG_012047.2:g.69686G>A
NG_012047.3:g.69693G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1903+48G>A MANE Select ENSP00000260947.4:n.1903+48G>A
ENST00000421162.2:c.550+48G>A ENSP00000392245.2:n.550+48G>A
ENST00000613192.2:c.159-14511G>A ENSP00000483275.2:n.159-14511G>A
ENST00000613374.5:c.493+48G>A ENSP00000484464.1:n.493+48G>A
ENST00000613706.5:c.1495+48G>A ENSP00000484976.2:n.1495+48G>A
ENST00000617164.5:c.1846+48G>A ENSP00000480470.1:n.1846+48G>A
ENST00000619009.5:c.365-14511G>A ENSP00000482293.1:n.365-14511G>A
ENST00000650978.1:c.3278+48G>A
ENST00000260947.8:c.1903+48G>A ENSP00000260947.4:n.1903+48G>A
ENST00000421162.1:c.550+48G>A ENSP00000392245.1:n.550+48G>A
ENST00000455743.5:c.*1523+48G>A ENSP00000412186.1:n.*1523+48G>A
ENST00000613192.1:c.74-14511G>A ENSP00000483275.1:n.74-14511G>A
ENST00000613374.4:c.493+48G>A ENSP00000484464.1:n.493+48G>A
ENST00000613706.4:c.550+48G>A ENSP00000484976.1:n.550+48G>A
ENST00000617164.4:c.1846+48G>A ENSP00000480470.1:n.1846+48G>A
ENST00000619009.4:c.365-14511G>A ENSP00000482293.1:n.365-14511G>A
ENST00000620057.4:c.*569+48G>A ENSP00000481988.1:n.*569+48G>A
NM_000465.3:c.1903+48G>A NP_000456.2:n.1903+48G>A
NM_001282543.1:c.1846+48G>A NP_001269472.1:n.1846+48G>A
NM_001282545.1:c.550+48G>A NP_001269474.1:n.550+48G>A
NM_001282548.1:c.493+48G>A NP_001269477.1:n.493+48G>A
NM_001282549.1:c.365-14511G>A NP_001269478.1:n.365-14511G>A
NR_104212.1:n.1896+48G>A
NR_104215.1:n.1839+48G>A
NR_104216.1:n.1095+48G>A
XM_011511567.1:c.1849+48G>A XP_011509869.1:n.1849+48G>A
XM_011511568.1:c.1903+48G>A XP_011509870.1:n.1903+48G>A
XM_017004613.1:c.2002+48G>A XP_016860102.1:n.2002+48G>A
XM_017004614.1:c.2002+48G>A XP_016860103.1:n.2002+48G>A
XR_002959322.1:n.2093+48G>A
NM_000465.4:c.1903+48G>A MANE Select NP_000456.2:n.1903+48G>A
NM_001282543.2:c.1846+48G>A NP_001269472.1:n.1846+48G>A
NM_001282545.2:c.550+48G>A NP_001269474.1:n.550+48G>A
NM_001282548.2:c.493+48G>A NP_001269477.1:n.493+48G>A
NM_001282549.2:c.365-14511G>A NP_001269478.1:n.365-14511G>A
NR_104212.2:n.1868+48G>A
NR_104215.2:n.1811+48G>A
NR_104216.2:n.1067+48G>A