Canonical Allele Identifier: CA10576023
Gene: HELLS HGNC NCBI

Linked Data

ClinVar Variation Id: 225526
ClinVar RCV Id: RCV000210911
dbSNP Id: rs879253735

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94574092A>T , CM000672.2:g.94574092A>T GRCh38
NC_000010.10:g.96333849A>T , CM000672.1:g.96333849A>T GRCh37
NC_000010.9:g.96323839A>T NCBI36
NG_047057.1:g.33326A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371332.9:c.545A>T ENSP00000360383.6:n.545A>T
ENST00000394036.6:c.610A>T ENSP00000377601.2:p.Lys204Ter
ENST00000394045.6:c.610A>T ENSP00000377609.1:p.Lys204Ter
ENST00000419900.6:c.562A>T ENSP00000409945.2:p.Lys188Ter
ENST00000475263.2:n.610A>T
ENST00000630929.3:c.654A>T ENSP00000485823.1:n.654A>T
ENST00000698650.1:n.514A>T
ENST00000698651.1:n.744A>T
ENST00000698674.1:n.2368A>T
ENST00000698675.1:c.610A>T ENSP00000513940.1:p.Lys204Ter
ENST00000698799.1:c.610A>T ENSP00000513942.1:p.Lys204Ter
ENST00000698800.1:c.610A>T ENSP00000513943.1:p.Lys204Ter
ENST00000698830.1:c.610A>T ENSP00000513967.1:p.Lys204Ter
ENST00000348459.10:c.610A>T MANE Select ENSP00000239027.7:p.Lys204Ter
ENST00000239026.10:c.238A>T ENSP00000239026.7:p.Lys80Ter
ENST00000348459.9:c.610A>T ENSP00000239027.7:p.Lys204Ter
ENST00000371332.8:c.196A>T ENSP00000360383.5:p.Lys66Ter
ENST00000394036.5:c.610A>T ENSP00000377601.2:p.Lys204Ter
ENST00000394045.5:c.610A>T ENSP00000377609.1:p.Lys204Ter
ENST00000419900.5:c.562A>T ENSP00000409945.1:p.Lys188Ter
ENST00000466552.1:n.2368A>T
NM_001289067.1:c.610A>T NP_001275996.1:p.Lys204Ter
NM_001289068.1:c.562A>T NP_001275997.1:p.Lys188Ter
NM_001289069.1:c.610A>T NP_001275998.1:p.Lys204Ter
NM_001289070.1:c.610A>T NP_001275999.1:p.Lys204Ter
NM_001289071.1:c.238A>T NP_001276000.1:p.Lys80Ter
NM_001289072.1:c.610A>T NP_001276001.1:p.Lys204Ter
NM_001289073.1:c.196A>T NP_001276002.1:p.Lys66Ter
NM_001289074.1:c.-393A>T NP_001276003.1:n.-393A>T
NM_001289075.1:c.-412A>T NP_001276004.1:n.-412A>T
NM_018063.4:c.610A>T NP_060533.2:p.Lys204Ter
XM_024447967.1:c.-57A>T XP_024303735.1:n.-57A>T
XM_024447968.1:c.610A>T XP_024303736.1:p.Lys204Ter
NM_018063.5:c.610A>T MANE Select NP_060533.2:p.Lys204Ter
NM_001289068.2:c.562A>T NP_001275997.1:p.Lys188Ter
NM_001289069.2:c.610A>T NP_001275998.1:p.Lys204Ter
NM_001289071.2:c.238A>T NP_001276000.1:p.Lys80Ter
NM_001289072.2:c.610A>T NP_001276001.1:p.Lys204Ter
NM_001289073.2:c.196A>T NP_001276002.1:p.Lys66Ter
NM_001289074.2:c.-393A>T NP_001276003.1:n.-393A>T
NM_001289075.2:c.-412A>T NP_001276004.1:n.-412A>T
NM_001289067.2:c.610A>T NP_001275996.1:p.Lys204Ter
NM_001289070.2:c.610A>T NP_001275999.1:p.Lys204Ter