Canonical Allele Identifier: CA377667705

Gene: HELLS

Linked Data

• dbSNP Id: rs1179599077
• gnomAD v2: 10-96354462-C-T
• gnomAD v3: 10-94594705-C-T
• gnomAD v4: 10-94594705-C-T
• MyVariant Identifiers: chr10:g.96354462C>T (hg19) ; chr10:g.94594705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94594705C>T , CM000672.2:g.94594705C>T	GRCh38
NC_000010.10:g.96354462C>T , CM000672.1:g.96354462C>T	GRCh37
NC_000010.9:g.96344452C>T	NCBI36
NG_047057.1:g.53939C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371327.3:c.773C>T	ENSP00000360378.2:p.Ser258Leu
ENST00000371332.9:c.2034C>T	ENSP00000360383.6:n.2034C>T
ENST00000394036.6:c.2237C>T	ENSP00000377601.2:p.Ser746Leu
ENST00000394045.6:c.1805C>T	ENSP00000377609.1:p.Ser602Leu
ENST00000419900.6:c.2051C>T	ENSP00000409945.2:p.Ser684Leu
ENST00000475263.2:n.2099C>T
ENST00000630929.3:c.2143C>T	ENSP00000485823.1:n.2143C>T
ENST00000698675.1:c.2003C>T	ENSP00000513940.1:p.Ser668Leu
ENST00000698799.1:c.1709C>T	ENSP00000513942.1:p.Ser570Leu
ENST00000698800.1:c.1902C>T	ENSP00000513943.1:n.1902C>T
ENST00000698830.1:c.2018C>T	ENSP00000513967.1:n.2018C>T
ENST00000348459.10:c.2099C>T MANE Select	ENSP00000239027.7:p.Ser700Leu
ENST00000239026.10:c.1727C>T	ENSP00000239026.7:p.Ser576Leu
ENST00000348459.9:c.2099C>T	ENSP00000239027.7:p.Ser700Leu
ENST00000371327.2:c.410C>T	ENSP00000360378.1:p.Ser137Leu
ENST00000371332.8:c.1685C>T	ENSP00000360383.5:p.Ser562Leu
ENST00000394036.5:c.2237C>T	ENSP00000377601.2:p.Ser746Leu
ENST00000394045.5:c.1805C>T	ENSP00000377609.1:p.Ser602Leu
NM_001289067.1:c.2237C>T	NP_001275996.1:p.Ser746Leu
NM_001289068.1:c.2051C>T	NP_001275997.1:p.Ser684Leu
NM_001289069.1:c.2003C>T	NP_001275998.1:p.Ser668Leu
NM_001289070.1:c.1805C>T	NP_001275999.1:p.Ser602Leu
NM_001289071.1:c.1727C>T	NP_001276000.1:p.Ser576Leu
NM_001289072.1:c.1709C>T	NP_001276001.1:p.Ser570Leu
NM_001289073.1:c.1685C>T	NP_001276002.1:p.Ser562Leu
NM_001289074.1:c.1016C>T	NP_001276003.1:p.Ser339Leu
NM_001289075.1:c.881C>T	NP_001276004.1:p.Ser294Leu
NM_018063.4:c.2099C>T	NP_060533.2:p.Ser700Leu
XM_024447967.1:c.1433C>T	XP_024303735.1:p.Ser478Leu
XM_024447968.1:c.2237C>T	XP_024303736.1:p.Ser746Leu
NM_018063.5:c.2099C>T MANE Select	NP_060533.2:p.Ser700Leu
NM_001289068.2:c.2051C>T	NP_001275997.1:p.Ser684Leu
NM_001289069.2:c.2003C>T	NP_001275998.1:p.Ser668Leu
NM_001289071.2:c.1727C>T	NP_001276000.1:p.Ser576Leu
NM_001289072.2:c.1709C>T	NP_001276001.1:p.Ser570Leu
NM_001289073.2:c.1685C>T	NP_001276002.1:p.Ser562Leu
NM_001289074.2:c.1016C>T	NP_001276003.1:p.Ser339Leu
NM_001289075.2:c.881C>T	NP_001276004.1:p.Ser294Leu
NM_001289067.2:c.2237C>T	NP_001275996.1:p.Ser746Leu
NM_001289070.2:c.1805C>T	NP_001275999.1:p.Ser602Leu