Canonical Allele Identifier: CA501487676

Gene: HELZ

Linked Data

• dbSNP Id: rs1446171149
• gnomAD v3: 17-67128774-C-T
• gnomAD v4: 17-67128774-C-T
• MyVariant Identifiers: chr17:g.65124890C>T (hg19) ; chr17:g.67128774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128774C>T , CM000679.2:g.67128774C>T	GRCh38
NC_000017.10:g.65124890C>T , CM000679.1:g.65124890C>T	GRCh37
NC_000017.9:g.62555352C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3264G>A MANE Select	ENSP00000351524.5:p.Gln1088=
ENST00000358691.9:c.3264G>A	ENSP00000351524.5:p.Gln1088=
ENST00000579953.5:c.3267G>A	ENSP00000463727.1:p.Gln1089=
ENST00000580168.5:c.3267G>A	ENSP00000464512.1:p.Gln1089=
NM_014877.3:c.3264G>A	NP_055692.2:p.Gln1088=
XM_005257888.3:c.3345G>A	XP_005257945.1:p.Gln1115=
XM_005257889.3:c.3267G>A	XP_005257946.1:p.Gln1089=
XM_005257890.3:c.3243G>A	XP_005257947.1:p.Gln1081=
XM_006722214.2:c.3348G>A	XP_006722277.1:p.Gln1116=
XM_006722215.2:c.2643G>A	XP_006722278.1:p.Gln881=
XM_006722216.2:c.2172G>A	XP_006722279.1:p.Gln724=
XM_011525544.1:c.3348G>A	XP_011523846.1:p.Gln1116=
XM_011525545.1:c.3348G>A	XP_011523847.1:p.Gln1116=
XR_934629.1:n.3339G>A
NM_001330447.1:c.3267G>A	NP_001317376.1:p.Gln1089=
XM_005257888.5:c.3345G>A	XP_005257945.1:p.Gln1115=
XM_006722214.4:c.3348G>A	XP_006722277.1:p.Gln1116=
XM_006722215.3:c.2643G>A	XP_006722278.1:p.Gln881=
XM_006722216.3:c.2172G>A	XP_006722279.1:p.Gln724=
XM_011525544.2:c.3348G>A	XP_011523846.1:p.Gln1116=
XM_017025477.2:c.2559G>A	XP_016880966.1:p.Gln853=
XM_017025478.1:c.2091G>A	XP_016880967.1:p.Gln697=
XR_001752712.2:n.3439G>A
XR_001752713.2:n.3291G>A
XR_001752714.2:n.3207G>A
NM_014877.4:c.3264G>A MANE Select	NP_055692.3:p.Gln1088=
NM_001330447.2:c.3267G>A	NP_001317376.2:p.Gln1089=