Canonical Allele Identifier: CA350449741
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728700A>C , CM000664.2:g.214728700A>C GRCh38
NC_000002.11:g.215593424A>C , CM000664.1:g.215593424A>C GRCh37
NC_000002.10:g.215301669A>C NCBI36
NG_012047.2:g.86005T>G
NG_012047.3:g.86012T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2310T>G MANE Select ENSP00000260947.4:p.Phe770Leu
ENST00000421162.2:c.957T>G ENSP00000392245.2:p.Phe319Leu
ENST00000613192.2:c.*373T>G ENSP00000483275.2:n.*373T>G
ENST00000613374.5:c.900T>G ENSP00000484464.1:p.Phe300Leu
ENST00000613706.5:c.1902T>G ENSP00000484976.2:p.Phe634Leu
ENST00000617164.5:c.2253T>G ENSP00000480470.1:p.Phe751Leu
ENST00000619009.5:c.771T>G ENSP00000482293.1:p.Phe257Leu
ENST00000650978.1:c.3685T>G
ENST00000260947.8:c.2310T>G ENSP00000260947.4:p.Phe770Leu
ENST00000432456.5:c.453T>G
ENST00000471590.5:n.645T>G
ENST00000613192.1:c.480T>G ENSP00000483275.1:p.Phe160Leu
ENST00000613374.4:c.900T>G ENSP00000484464.1:p.Phe300Leu
ENST00000613706.4:c.957T>G ENSP00000484976.1:p.Phe319Leu
ENST00000617164.4:c.2253T>G ENSP00000480470.1:p.Phe751Leu
ENST00000619009.4:c.771T>G ENSP00000482293.1:p.Phe257Leu
ENST00000620057.4:c.*976T>G ENSP00000481988.1:n.*976T>G
NM_000465.3:c.2310T>G NP_000456.2:p.Phe770Leu
NM_001282543.1:c.2253T>G NP_001269472.1:p.Phe751Leu
NM_001282545.1:c.957T>G NP_001269474.1:p.Phe319Leu
NM_001282548.1:c.900T>G NP_001269477.1:p.Phe300Leu
NM_001282549.1:c.771T>G NP_001269478.1:p.Phe257Leu
NR_104212.1:n.2303T>G
NR_104215.1:n.2246T>G
NR_104216.1:n.1502T>G
XM_011511567.1:c.2256T>G XP_011509869.1:p.Phe752Leu
XM_017004613.1:c.2409T>G XP_016860102.1:p.Phe803Leu
XR_002959322.1:n.2676T>G
NM_000465.4:c.2310T>G MANE Select NP_000456.2:p.Phe770Leu
NM_001282543.2:c.2253T>G NP_001269472.1:p.Phe751Leu
NM_001282545.2:c.957T>G NP_001269474.1:p.Phe319Leu
NM_001282548.2:c.900T>G NP_001269477.1:p.Phe300Leu
NM_001282549.2:c.771T>G NP_001269478.1:p.Phe257Leu
NR_104212.2:n.2275T>G
NR_104215.2:n.2218T>G
NR_104216.2:n.1474T>G