Canonical Allele Identifier: CA2610254311

Gene: HELLS

Linked Data

• gnomAD v4: 10-94562648-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94562648A>T , CM000672.2:g.94562648A>T	GRCh38
NC_000010.10:g.96322405A>T , CM000672.1:g.96322405A>T	GRCh37
NC_000010.9:g.96312395A>T	NCBI36
NG_047057.1:g.21882A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371332.9:c.334-43A>T	ENSP00000360383.6:n.334-43A>T
ENST00000394036.6:c.334-43A>T	ENSP00000377601.2:n.334-43A>T
ENST00000394045.6:c.334-43A>T	ENSP00000377609.1:n.334-43A>T
ENST00000419900.6:c.286-43A>T	ENSP00000409945.2:n.286-43A>T
ENST00000475263.2:n.334-43A>T
ENST00000630929.3:c.378-43A>T	ENSP00000485823.1:n.378-43A>T
ENST00000698650.1:n.303-43A>T
ENST00000698651.1:n.468-43A>T
ENST00000698673.1:c.*234-43A>T	ENSP00000513870.1:n.*234-43A>T
ENST00000698675.1:c.334-43A>T	ENSP00000513940.1:n.334-43A>T
ENST00000698799.1:c.334-43A>T	ENSP00000513942.1:n.334-43A>T
ENST00000698800.1:c.334-43A>T	ENSP00000513943.1:n.334-43A>T
ENST00000698830.1:c.334-43A>T	ENSP00000513967.1:n.334-43A>T
ENST00000348459.10:c.334-43A>T MANE Select	ENSP00000239027.7:n.334-43A>T
ENST00000239026.10:c.-39-43A>T	ENSP00000239026.7:n.-39-43A>T
ENST00000348459.9:c.334-43A>T	ENSP00000239027.7:n.334-43A>T
ENST00000371332.8:c.-16-43A>T	ENSP00000360383.5:n.-16-43A>T
ENST00000394036.5:c.334-43A>T	ENSP00000377601.2:n.334-43A>T
ENST00000394045.5:c.334-43A>T	ENSP00000377609.1:n.334-43A>T
ENST00000419900.5:c.286-43A>T	ENSP00000409945.1:n.286-43A>T
ENST00000462057.2:n.183-43A>T
NM_001289067.1:c.334-43A>T	NP_001275996.1:n.334-43A>T
NM_001289068.1:c.286-43A>T	NP_001275997.1:n.286-43A>T
NM_001289069.1:c.334-43A>T	NP_001275998.1:n.334-43A>T
NM_001289070.1:c.334-43A>T	NP_001275999.1:n.334-43A>T
NM_001289071.1:c.-39-43A>T	NP_001276000.1:n.-39-43A>T
NM_001289072.1:c.334-43A>T	NP_001276001.1:n.334-43A>T
NM_001289073.1:c.-16-43A>T	NP_001276002.1:n.-16-43A>T
NM_001289074.1:c.-669-43A>T	NP_001276003.1:n.-669-43A>T
NM_001289075.1:c.-688-43A>T	NP_001276004.1:n.-688-43A>T
NM_018063.4:c.334-43A>T	NP_060533.2:n.334-43A>T
XM_024447968.1:c.334-43A>T	XP_024303736.1:n.334-43A>T
NM_018063.5:c.334-43A>T MANE Select	NP_060533.2:n.334-43A>T
NM_001289068.2:c.286-43A>T	NP_001275997.1:n.286-43A>T
NM_001289069.2:c.334-43A>T	NP_001275998.1:n.334-43A>T
NM_001289071.2:c.-39-43A>T	NP_001276000.1:n.-39-43A>T
NM_001289072.2:c.334-43A>T	NP_001276001.1:n.334-43A>T
NM_001289073.2:c.-16-43A>T	NP_001276002.1:n.-16-43A>T
NM_001289074.2:c.-669-43A>T	NP_001276003.1:n.-669-43A>T
NM_001289075.2:c.-688-43A>T	NP_001276004.1:n.-688-43A>T
NM_001289067.2:c.334-43A>T	NP_001275996.1:n.334-43A>T
NM_001289070.2:c.334-43A>T	NP_001275999.1:n.334-43A>T