Canonical Allele Identifier: CA10576020
Gene: HELLS HGNC NCBI

Linked Data

ClinVar Variation Id: 225523
ClinVar RCV Id: RCV000210912
dbSNP Id: rs879253733
MyVariant Identifiers: chr10:g.96354459A>G (hg19) chr10:g.94594702A>G (hg38)
PubMed: PMID:21596365 PMID:26216346
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94594702A>G , CM000672.2:g.94594702A>G GRCh38
NC_000010.10:g.96354459A>G , CM000672.1:g.96354459A>G GRCh37
NC_000010.9:g.96344449A>G NCBI36
NG_047057.1:g.53936A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371327.3:c.770A>G ENSP00000360378.2:p.Gln257Arg
ENST00000371332.9:c.2031A>G ENSP00000360383.6:n.2031A>G
ENST00000394036.6:c.2234A>G ENSP00000377601.2:p.Gln745Arg
ENST00000394045.6:c.1802A>G ENSP00000377609.1:p.Gln601Arg
ENST00000419900.6:c.2048A>G ENSP00000409945.2:p.Gln683Arg
ENST00000475263.2:n.2096A>G
ENST00000630929.3:c.2140A>G ENSP00000485823.1:n.2140A>G
ENST00000698675.1:c.2000A>G ENSP00000513940.1:p.Gln667Arg
ENST00000698799.1:c.1706A>G ENSP00000513942.1:p.Gln569Arg
ENST00000698800.1:c.1899A>G ENSP00000513943.1:n.1899A>G
ENST00000698830.1:c.2015A>G ENSP00000513967.1:n.2015A>G
ENST00000348459.10:c.2096A>G MANE Select ENSP00000239027.7:p.Gln699Arg
ENST00000239026.10:c.1724A>G ENSP00000239026.7:p.Gln575Arg
ENST00000348459.9:c.2096A>G ENSP00000239027.7:p.Gln699Arg
ENST00000371327.2:c.407A>G ENSP00000360378.1:p.Gln136Arg
ENST00000371332.8:c.1682A>G ENSP00000360383.5:p.Gln561Arg
ENST00000394036.5:c.2234A>G ENSP00000377601.2:p.Gln745Arg
ENST00000394045.5:c.1802A>G ENSP00000377609.1:p.Gln601Arg
NM_001289067.1:c.2234A>G NP_001275996.1:p.Gln745Arg
NM_001289068.1:c.2048A>G NP_001275997.1:p.Gln683Arg
NM_001289069.1:c.2000A>G NP_001275998.1:p.Gln667Arg
NM_001289070.1:c.1802A>G NP_001275999.1:p.Gln601Arg
NM_001289071.1:c.1724A>G NP_001276000.1:p.Gln575Arg
NM_001289072.1:c.1706A>G NP_001276001.1:p.Gln569Arg
NM_001289073.1:c.1682A>G NP_001276002.1:p.Gln561Arg
NM_001289074.1:c.1013A>G NP_001276003.1:p.Gln338Arg
NM_001289075.1:c.878A>G NP_001276004.1:p.Gln293Arg
NM_018063.4:c.2096A>G NP_060533.2:p.Gln699Arg
XM_024447967.1:c.1430A>G XP_024303735.1:p.Gln477Arg
XM_024447968.1:c.2234A>G XP_024303736.1:p.Gln745Arg
NM_018063.5:c.2096A>G MANE Select NP_060533.2:p.Gln699Arg
NM_001289068.2:c.2048A>G NP_001275997.1:p.Gln683Arg
NM_001289069.2:c.2000A>G NP_001275998.1:p.Gln667Arg
NM_001289071.2:c.1724A>G NP_001276000.1:p.Gln575Arg
NM_001289072.2:c.1706A>G NP_001276001.1:p.Gln569Arg
NM_001289073.2:c.1682A>G NP_001276002.1:p.Gln561Arg
NM_001289074.2:c.1013A>G NP_001276003.1:p.Gln338Arg
NM_001289075.2:c.878A>G NP_001276004.1:p.Gln293Arg
NM_001289067.2:c.2234A>G NP_001275996.1:p.Gln745Arg
NM_001289070.2:c.1802A>G NP_001275999.1:p.Gln601Arg
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