Canonical Allele Identifier: CA1327070836
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1694930514

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780451G>A , CM000664.2:g.214780451G>A GRCh38
NC_000002.11:g.215645175G>A , CM000664.1:g.215645175G>A GRCh37
NC_000002.10:g.215353420G>A NCBI36
NG_012047.2:g.34254C>T
NG_012047.3:g.34261C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1314+109C>T MANE Select ENSP00000260947.4:n.1314+109C>T
ENST00000421162.2:c.215+16610C>T ENSP00000392245.2:n.215+16610C>T
ENST00000613192.2:c.158+28961C>T ENSP00000483275.2:n.158+28961C>T
ENST00000613374.5:c.159-27896C>T ENSP00000484464.1:n.159-27896C>T
ENST00000613706.5:c.906+517C>T ENSP00000484976.2:n.906+517C>T
ENST00000617164.5:c.1257+109C>T ENSP00000480470.1:n.1257+109C>T
ENST00000619009.5:c.364+11846C>T ENSP00000482293.1:n.364+11846C>T
ENST00000650978.1:c.1156+109C>T
ENST00000260947.8:c.1314+109C>T ENSP00000260947.4:n.1314+109C>T
ENST00000421162.1:c.215+16610C>T ENSP00000392245.1:n.215+16610C>T
ENST00000455743.5:c.*934+109C>T ENSP00000412186.1:n.*934+109C>T
ENST00000613192.1:c.73+28961C>T ENSP00000483275.1:n.73+28961C>T
ENST00000613374.4:c.159-27896C>T ENSP00000484464.1:n.159-27896C>T
ENST00000613706.4:c.215+16610C>T ENSP00000484976.1:n.215+16610C>T
ENST00000617164.4:c.1257+109C>T ENSP00000480470.1:n.1257+109C>T
ENST00000619009.4:c.364+11846C>T ENSP00000482293.1:n.364+11846C>T
ENST00000620057.4:c.365-11139C>T ENSP00000481988.1:n.365-11139C>T
NM_000465.3:c.1314+109C>T NP_000456.2:n.1314+109C>T
NM_001282543.1:c.1257+109C>T NP_001269472.1:n.1257+109C>T
NM_001282545.1:c.215+16610C>T NP_001269474.1:n.215+16610C>T
NM_001282548.1:c.159-27896C>T NP_001269477.1:n.159-27896C>T
NM_001282549.1:c.364+11846C>T NP_001269478.1:n.364+11846C>T
NR_104212.1:n.1307+109C>T
NR_104215.1:n.1250+109C>T
NR_104216.1:n.507-11139C>T
XM_011511567.1:c.1260+109C>T XP_011509869.1:n.1260+109C>T
XM_011511568.1:c.1314+109C>T XP_011509870.1:n.1314+109C>T
XM_017004613.1:c.1413+109C>T XP_016860102.1:n.1413+109C>T
XM_017004614.1:c.1413+109C>T XP_016860103.1:n.1413+109C>T
XR_002959322.1:n.1504+109C>T
NM_000465.4:c.1314+109C>T MANE Select NP_000456.2:n.1314+109C>T
NM_001282543.2:c.1257+109C>T NP_001269472.1:n.1257+109C>T
NM_001282545.2:c.215+16610C>T NP_001269474.1:n.215+16610C>T
NM_001282548.2:c.159-27896C>T NP_001269477.1:n.159-27896C>T
NM_001282549.2:c.364+11846C>T NP_001269478.1:n.364+11846C>T
NR_104212.2:n.1279+109C>T
NR_104215.2:n.1222+109C>T
NR_104216.2:n.479-11139C>T