Canonical Allele Identifier: CA377667724

Gene: HELLS

Linked Data

• MyVariant Identifiers: chr10:g.96354471A>C (hg19) ; chr10:g.94594714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94594714A>C , CM000672.2:g.94594714A>C	GRCh38
NC_000010.10:g.96354471A>C , CM000672.1:g.96354471A>C	GRCh37
NC_000010.9:g.96344461A>C	NCBI36
NG_047057.1:g.53948A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371327.3:c.782A>C	ENSP00000360378.2:p.Gln261Pro
ENST00000371332.9:c.2043A>C	ENSP00000360383.6:n.2043A>C
ENST00000394036.6:c.2246A>C	ENSP00000377601.2:p.Gln749Pro
ENST00000394045.6:c.1814A>C	ENSP00000377609.1:p.Gln605Pro
ENST00000419900.6:c.2060A>C	ENSP00000409945.2:p.Gln687Pro
ENST00000475263.2:n.2108A>C
ENST00000630929.3:c.2152A>C	ENSP00000485823.1:n.2152A>C
ENST00000698675.1:c.2012A>C	ENSP00000513940.1:p.Gln671Pro
ENST00000698799.1:c.1718A>C	ENSP00000513942.1:p.Gln573Pro
ENST00000698800.1:c.1911A>C	ENSP00000513943.1:n.1911A>C
ENST00000698830.1:c.2027A>C	ENSP00000513967.1:n.2027A>C
ENST00000348459.10:c.2108A>C MANE Select	ENSP00000239027.7:p.Gln703Pro
ENST00000239026.10:c.1736A>C	ENSP00000239026.7:p.Gln579Pro
ENST00000348459.9:c.2108A>C	ENSP00000239027.7:p.Gln703Pro
ENST00000371327.2:c.419A>C	ENSP00000360378.1:p.Gln140Pro
ENST00000371332.8:c.1694A>C	ENSP00000360383.5:p.Gln565Pro
ENST00000394036.5:c.2246A>C	ENSP00000377601.2:p.Gln749Pro
ENST00000394045.5:c.1814A>C	ENSP00000377609.1:p.Gln605Pro
NM_001289067.1:c.2246A>C	NP_001275996.1:p.Gln749Pro
NM_001289068.1:c.2060A>C	NP_001275997.1:p.Gln687Pro
NM_001289069.1:c.2012A>C	NP_001275998.1:p.Gln671Pro
NM_001289070.1:c.1814A>C	NP_001275999.1:p.Gln605Pro
NM_001289071.1:c.1736A>C	NP_001276000.1:p.Gln579Pro
NM_001289072.1:c.1718A>C	NP_001276001.1:p.Gln573Pro
NM_001289073.1:c.1694A>C	NP_001276002.1:p.Gln565Pro
NM_001289074.1:c.1025A>C	NP_001276003.1:p.Gln342Pro
NM_001289075.1:c.890A>C	NP_001276004.1:p.Gln297Pro
NM_018063.4:c.2108A>C	NP_060533.2:p.Gln703Pro
XM_024447967.1:c.1442A>C	XP_024303735.1:p.Gln481Pro
XM_024447968.1:c.2246A>C	XP_024303736.1:p.Gln749Pro
NM_018063.5:c.2108A>C MANE Select	NP_060533.2:p.Gln703Pro
NM_001289068.2:c.2060A>C	NP_001275997.1:p.Gln687Pro
NM_001289069.2:c.2012A>C	NP_001275998.1:p.Gln671Pro
NM_001289071.2:c.1736A>C	NP_001276000.1:p.Gln579Pro
NM_001289072.2:c.1718A>C	NP_001276001.1:p.Gln573Pro
NM_001289073.2:c.1694A>C	NP_001276002.1:p.Gln565Pro
NM_001289074.2:c.1025A>C	NP_001276003.1:p.Gln342Pro
NM_001289075.2:c.890A>C	NP_001276004.1:p.Gln297Pro
NM_001289067.2:c.2246A>C	NP_001275996.1:p.Gln749Pro
NM_001289070.2:c.1814A>C	NP_001275999.1:p.Gln605Pro