Canonical Allele Identifier: CA1327071052
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780775A= , CM000664.2:g.214780775A= GRCh38
NC_000002.11:g.215645499A= , CM000664.1:g.215645499A= GRCh37
NC_000002.10:g.215353744A= NCBI36
NG_012047.2:g.33930T=
NG_012047.3:g.33937T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1099T= MANE Select ENSP00000260947.4:p.Ser367=
ENST00000421162.2:c.215+16286T= ENSP00000392245.2:n.215+16286T=
ENST00000613192.2:c.158+28637T= ENSP00000483275.2:n.158+28637T=
ENST00000613374.5:c.159-28220T= ENSP00000484464.1:n.159-28220T=
ENST00000613706.5:c.906+193T= ENSP00000484976.2:n.906+193T=
ENST00000617164.5:c.1042T= ENSP00000480470.1:p.Ser348=
ENST00000619009.5:c.364+11522T= ENSP00000482293.1:n.364+11522T=
ENST00000650978.1:c.941T=
ENST00000260947.8:c.1099T= ENSP00000260947.4:p.Ser367=
ENST00000421162.1:c.215+16286T= ENSP00000392245.1:n.215+16286T=
ENST00000455743.5:c.*719T= ENSP00000412186.1:n.*719T=
ENST00000613192.1:c.73+28637T= ENSP00000483275.1:n.73+28637T=
ENST00000613374.4:c.159-28220T= ENSP00000484464.1:n.159-28220T=
ENST00000613706.4:c.215+16286T= ENSP00000484976.1:n.215+16286T=
ENST00000617164.4:c.1042T= ENSP00000480470.1:p.Ser348=
ENST00000619009.4:c.364+11522T= ENSP00000482293.1:n.364+11522T=
ENST00000620057.4:c.365-11463T= ENSP00000481988.1:n.365-11463T=
NM_000465.3:c.1099T= NP_000456.2:p.Ser367=
NM_001282543.1:c.1042T= NP_001269472.1:p.Ser348=
NM_001282545.1:c.215+16286T= NP_001269474.1:n.215+16286T=
NM_001282548.1:c.159-28220T= NP_001269477.1:n.159-28220T=
NM_001282549.1:c.364+11522T= NP_001269478.1:n.364+11522T=
NR_104212.1:n.1092T=
NR_104215.1:n.1035T=
NR_104216.1:n.507-11463T=
XM_011511567.1:c.1045T= XP_011509869.1:p.Ser349=
XM_011511568.1:c.1099T= XP_011509870.1:p.Ser367=
XM_017004613.1:c.1198T= XP_016860102.1:p.Ser400=
XM_017004614.1:c.1198T= XP_016860103.1:p.Ser400=
XR_002959322.1:n.1289T=
NM_000465.4:c.1099T= MANE Select NP_000456.2:p.Ser367=
NM_001282543.2:c.1042T= NP_001269472.1:p.Ser348=
NM_001282545.2:c.215+16286T= NP_001269474.1:n.215+16286T=
NM_001282548.2:c.159-28220T= NP_001269477.1:n.159-28220T=
NM_001282549.2:c.364+11522T= NP_001269478.1:n.364+11522T=
NR_104212.2:n.1064T=
NR_104215.2:n.1007T=
NR_104216.2:n.479-11463T=