Canonical Allele Identifier: CA350453854
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1355500
ClinVar RCV Id: RCV001866948
dbSNP Id: rs1553622207

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780697C>T , CM000664.2:g.214780697C>T GRCh38
NC_000002.11:g.215645421C>T , CM000664.1:g.215645421C>T GRCh37
NC_000002.10:g.215353666C>T NCBI36
NG_012047.2:g.34008G>A
NG_012047.3:g.34015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1177G>A MANE Select ENSP00000260947.4:p.Gly393Ser
ENST00000421162.2:c.215+16364G>A ENSP00000392245.2:n.215+16364G>A
ENST00000613192.2:c.158+28715G>A ENSP00000483275.2:n.158+28715G>A
ENST00000613374.5:c.159-28142G>A ENSP00000484464.1:n.159-28142G>A
ENST00000613706.5:c.906+271G>A ENSP00000484976.2:n.906+271G>A
ENST00000617164.5:c.1120G>A ENSP00000480470.1:p.Gly374Ser
ENST00000619009.5:c.364+11600G>A ENSP00000482293.1:n.364+11600G>A
ENST00000650978.1:c.1019G>A
ENST00000260947.8:c.1177G>A ENSP00000260947.4:p.Gly393Ser
ENST00000421162.1:c.215+16364G>A ENSP00000392245.1:n.215+16364G>A
ENST00000455743.5:c.*797G>A ENSP00000412186.1:n.*797G>A
ENST00000613192.1:c.73+28715G>A ENSP00000483275.1:n.73+28715G>A
ENST00000613374.4:c.159-28142G>A ENSP00000484464.1:n.159-28142G>A
ENST00000613706.4:c.215+16364G>A ENSP00000484976.1:n.215+16364G>A
ENST00000617164.4:c.1120G>A ENSP00000480470.1:p.Gly374Ser
ENST00000619009.4:c.364+11600G>A ENSP00000482293.1:n.364+11600G>A
ENST00000620057.4:c.365-11385G>A ENSP00000481988.1:n.365-11385G>A
NM_000465.3:c.1177G>A NP_000456.2:p.Gly393Ser
NM_001282543.1:c.1120G>A NP_001269472.1:p.Gly374Ser
NM_001282545.1:c.215+16364G>A NP_001269474.1:n.215+16364G>A
NM_001282548.1:c.159-28142G>A NP_001269477.1:n.159-28142G>A
NM_001282549.1:c.364+11600G>A NP_001269478.1:n.364+11600G>A
NR_104212.1:n.1170G>A
NR_104215.1:n.1113G>A
NR_104216.1:n.507-11385G>A
XM_011511567.1:c.1123G>A XP_011509869.1:p.Gly375Ser
XM_011511568.1:c.1177G>A XP_011509870.1:p.Gly393Ser
XM_017004613.1:c.1276G>A XP_016860102.1:p.Gly426Ser
XM_017004614.1:c.1276G>A XP_016860103.1:p.Gly426Ser
XR_002959322.1:n.1367G>A
NM_000465.4:c.1177G>A MANE Select NP_000456.2:p.Gly393Ser
NM_001282543.2:c.1120G>A NP_001269472.1:p.Gly374Ser
NM_001282545.2:c.215+16364G>A NP_001269474.1:n.215+16364G>A
NM_001282548.2:c.159-28142G>A NP_001269477.1:n.159-28142G>A
NM_001282549.2:c.364+11600G>A NP_001269478.1:n.364+11600G>A
NR_104212.2:n.1142G>A
NR_104215.2:n.1085G>A
NR_104216.2:n.479-11385G>A