Canonical Allele Identifier: CA470822448

Gene: HELLS

Linked Data

• MyVariant Identifiers: chr10:g.96354466T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94594709T>C , CM000672.2:g.94594709T>C	GRCh38
NC_000010.10:g.96354466T>C , CM000672.1:g.96354466T>C	GRCh37
NC_000010.9:g.96344456T>C	NCBI36
NG_047057.1:g.53943T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371327.3:c.777T>C	ENSP00000360378.2:p.Asp259=
ENST00000371332.9:c.2038T>C	ENSP00000360383.6:n.2038T>C
ENST00000394036.6:c.2241T>C	ENSP00000377601.2:p.Asp747=
ENST00000394045.6:c.1809T>C	ENSP00000377609.1:p.Asp603=
ENST00000419900.6:c.2055T>C	ENSP00000409945.2:p.Asp685=
ENST00000475263.2:n.2103T>C
ENST00000630929.3:c.2147T>C	ENSP00000485823.1:n.2147T>C
ENST00000698675.1:c.2007T>C	ENSP00000513940.1:p.Asp669=
ENST00000698799.1:c.1713T>C	ENSP00000513942.1:p.Asp571=
ENST00000698800.1:c.1906T>C	ENSP00000513943.1:n.1906T>C
ENST00000698830.1:c.2022T>C	ENSP00000513967.1:n.2022T>C
ENST00000348459.10:c.2103T>C MANE Select	ENSP00000239027.7:p.Asp701=
ENST00000239026.10:c.1731T>C	ENSP00000239026.7:p.Asp577=
ENST00000348459.9:c.2103T>C	ENSP00000239027.7:p.Asp701=
ENST00000371327.2:c.414T>C	ENSP00000360378.1:p.Asp138=
ENST00000371332.8:c.1689T>C	ENSP00000360383.5:p.Asp563=
ENST00000394036.5:c.2241T>C	ENSP00000377601.2:p.Asp747=
ENST00000394045.5:c.1809T>C	ENSP00000377609.1:p.Asp603=
NM_001289067.1:c.2241T>C	NP_001275996.1:p.Asp747=
NM_001289068.1:c.2055T>C	NP_001275997.1:p.Asp685=
NM_001289069.1:c.2007T>C	NP_001275998.1:p.Asp669=
NM_001289070.1:c.1809T>C	NP_001275999.1:p.Asp603=
NM_001289071.1:c.1731T>C	NP_001276000.1:p.Asp577=
NM_001289072.1:c.1713T>C	NP_001276001.1:p.Asp571=
NM_001289073.1:c.1689T>C	NP_001276002.1:p.Asp563=
NM_001289074.1:c.1020T>C	NP_001276003.1:p.Asp340=
NM_001289075.1:c.885T>C	NP_001276004.1:p.Asp295=
NM_018063.4:c.2103T>C	NP_060533.2:p.Asp701=
XM_024447967.1:c.1437T>C	XP_024303735.1:p.Asp479=
XM_024447968.1:c.2241T>C	XP_024303736.1:p.Asp747=
NM_018063.5:c.2103T>C MANE Select	NP_060533.2:p.Asp701=
NM_001289068.2:c.2055T>C	NP_001275997.1:p.Asp685=
NM_001289069.2:c.2007T>C	NP_001275998.1:p.Asp669=
NM_001289071.2:c.1731T>C	NP_001276000.1:p.Asp577=
NM_001289072.2:c.1713T>C	NP_001276001.1:p.Asp571=
NM_001289073.2:c.1689T>C	NP_001276002.1:p.Asp563=
NM_001289074.2:c.1020T>C	NP_001276003.1:p.Asp340=
NM_001289075.2:c.885T>C	NP_001276004.1:p.Asp295=
NM_001289067.2:c.2241T>C	NP_001275996.1:p.Asp747=
NM_001289070.2:c.1809T>C	NP_001275999.1:p.Asp603=