Canonical Allele Identifier: CA470822439

Gene: HELLS

Linked Data

• gnomAD v4: 10-94594703-G-A
• MyVariant Identifiers: chr10:g.96354460G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94594703G>A , CM000672.2:g.94594703G>A	GRCh38
NC_000010.10:g.96354460G>A , CM000672.1:g.96354460G>A	GRCh37
NC_000010.9:g.96344450G>A	NCBI36
NG_047057.1:g.53937G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371327.3:c.771G>A	ENSP00000360378.2:p.Gln257=
ENST00000371332.9:c.2032G>A	ENSP00000360383.6:n.2032G>A
ENST00000394036.6:c.2235G>A	ENSP00000377601.2:p.Gln745=
ENST00000394045.6:c.1803G>A	ENSP00000377609.1:p.Gln601=
ENST00000419900.6:c.2049G>A	ENSP00000409945.2:p.Gln683=
ENST00000475263.2:n.2097G>A
ENST00000630929.3:c.2141G>A	ENSP00000485823.1:n.2141G>A
ENST00000698675.1:c.2001G>A	ENSP00000513940.1:p.Gln667=
ENST00000698799.1:c.1707G>A	ENSP00000513942.1:p.Gln569=
ENST00000698800.1:c.1900G>A	ENSP00000513943.1:n.1900G>A
ENST00000698830.1:c.2016G>A	ENSP00000513967.1:n.2016G>A
ENST00000348459.10:c.2097G>A MANE Select	ENSP00000239027.7:p.Gln699=
ENST00000239026.10:c.1725G>A	ENSP00000239026.7:p.Gln575=
ENST00000348459.9:c.2097G>A	ENSP00000239027.7:p.Gln699=
ENST00000371327.2:c.408G>A	ENSP00000360378.1:p.Gln136=
ENST00000371332.8:c.1683G>A	ENSP00000360383.5:p.Gln561=
ENST00000394036.5:c.2235G>A	ENSP00000377601.2:p.Gln745=
ENST00000394045.5:c.1803G>A	ENSP00000377609.1:p.Gln601=
NM_001289067.1:c.2235G>A	NP_001275996.1:p.Gln745=
NM_001289068.1:c.2049G>A	NP_001275997.1:p.Gln683=
NM_001289069.1:c.2001G>A	NP_001275998.1:p.Gln667=
NM_001289070.1:c.1803G>A	NP_001275999.1:p.Gln601=
NM_001289071.1:c.1725G>A	NP_001276000.1:p.Gln575=
NM_001289072.1:c.1707G>A	NP_001276001.1:p.Gln569=
NM_001289073.1:c.1683G>A	NP_001276002.1:p.Gln561=
NM_001289074.1:c.1014G>A	NP_001276003.1:p.Gln338=
NM_001289075.1:c.879G>A	NP_001276004.1:p.Gln293=
NM_018063.4:c.2097G>A	NP_060533.2:p.Gln699=
XM_024447967.1:c.1431G>A	XP_024303735.1:p.Gln477=
XM_024447968.1:c.2235G>A	XP_024303736.1:p.Gln745=
NM_018063.5:c.2097G>A MANE Select	NP_060533.2:p.Gln699=
NM_001289068.2:c.2049G>A	NP_001275997.1:p.Gln683=
NM_001289069.2:c.2001G>A	NP_001275998.1:p.Gln667=
NM_001289071.2:c.1725G>A	NP_001276000.1:p.Gln575=
NM_001289072.2:c.1707G>A	NP_001276001.1:p.Gln569=
NM_001289073.2:c.1683G>A	NP_001276002.1:p.Gln561=
NM_001289074.2:c.1014G>A	NP_001276003.1:p.Gln338=
NM_001289075.2:c.879G>A	NP_001276004.1:p.Gln293=
NM_001289067.2:c.2235G>A	NP_001275996.1:p.Gln745=
NM_001289070.2:c.1803G>A	NP_001275999.1:p.Gln601=