Canonical Allele Identifier: CA11693090

Gene: HELQ

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83452469A>G , CM000666.2:g.83452469A>G	GRCh38
NC_000004.11:g.84373622A>G , CM000666.1:g.84373622A>G	GRCh37
NC_000004.10:g.84592646A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295488.8:c.1012+762T>C MANE Select	ENSP00000295488.3:n.1012+762T>C
ENST00000295488.7:c.1012+762T>C	ENSP00000295488.3:n.1012+762T>C
ENST00000508591.5:c.1012+762T>C	ENSP00000424186.1:n.1012+762T>C
ENST00000510985.1:c.1012+762T>C	ENSP00000424539.1:n.1012+762T>C
NM_001297755.1:c.1012+762T>C	NP_001284684.1:n.1012+762T>C
NM_001297756.1:c.-493+762T>C	NP_001284685.1:n.-493+762T>C
NM_001297757.1:c.-523+762T>C	NP_001284686.1:n.-523+762T>C
NM_001297758.1:c.*712T>C	NP_001284687.1:n.*712T>C
NM_001297759.1:c.*712T>C	NP_001284688.1:n.*712T>C
NM_133636.3:c.1012+762T>C	NP_598375.2:n.1012+762T>C
NR_123737.1:n.2092T>C
XM_005262711.1:c.901+762T>C	XP_005262768.1:n.901+762T>C
XM_005262713.1:c.694+762T>C	XP_005262770.1:n.694+762T>C
XM_006714076.1:c.1012+762T>C	XP_006714139.1:n.1012+762T>C
XM_011531579.1:c.-716T>C	XP_011529881.1:n.-716T>C
XM_011531580.1:c.1012+762T>C	XP_011529882.1:n.1012+762T>C
XR_938683.1:n.1191+762T>C
XR_938684.1:n.1191+762T>C
XM_005262713.3:c.694+762T>C	XP_005262770.1:n.694+762T>C
XM_006714076.3:c.1012+762T>C	XP_006714139.1:n.1012+762T>C
XM_011531580.3:c.1012+762T>C	XP_011529882.1:n.1012+762T>C
XM_017007679.1:c.901+762T>C	XP_016863168.1:n.901+762T>C
XM_017007680.2:c.694+762T>C	XP_016863169.1:n.694+762T>C
XM_017007681.2:c.1012+762T>C	XP_016863170.1:n.1012+762T>C
XM_017007682.1:c.-493+762T>C	XP_016863171.1:n.-493+762T>C
XM_024453883.1:c.694+762T>C	XP_024309651.1:n.694+762T>C
XM_024453884.1:c.-292+762T>C	XP_024309652.1:n.-292+762T>C
XR_938683.3:n.1191+762T>C
NM_133636.4:c.1012+762T>C	NP_598375.2:n.1012+762T>C
NM_001297755.2:c.1012+762T>C	NP_001284684.2:n.1012+762T>C
NM_001297756.2:c.-493+762T>C	NP_001284685.1:n.-493+762T>C
NM_001297757.2:c.-523+762T>C	NP_001284686.1:n.-523+762T>C
NM_001297758.2:c.*712T>C	NP_001284687.2:n.*712T>C
NM_001297759.2:c.*712T>C	NP_001284688.2:n.*712T>C
NM_133636.5:c.1012+762T>C MANE Select	NP_598375.3:n.1012+762T>C