Canonical Allele Identifier: CA400711358

Gene: HELZ

Linked Data

• gnomAD v4: 17-67128790-T-C
• COSMIC: COSM5055711
• MyVariant Identifiers: chr17:g.65124906T>C (hg19) ; chr17:g.67128790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128790T>C , CM000679.2:g.67128790T>C	GRCh38
NC_000017.10:g.65124906T>C , CM000679.1:g.65124906T>C	GRCh37
NC_000017.9:g.62555368T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3248A>G MANE Select	ENSP00000351524.5:p.Glu1083Gly
ENST00000358691.9:c.3248A>G	ENSP00000351524.5:p.Glu1083Gly
ENST00000579953.5:c.3251A>G	ENSP00000463727.1:p.Glu1084Gly
ENST00000580168.5:c.3251A>G	ENSP00000464512.1:p.Glu1084Gly
NM_014877.3:c.3248A>G	NP_055692.2:p.Glu1083Gly
XM_005257888.3:c.3329A>G	XP_005257945.1:p.Glu1110Gly
XM_005257889.3:c.3251A>G	XP_005257946.1:p.Glu1084Gly
XM_005257890.3:c.3227A>G	XP_005257947.1:p.Glu1076Gly
XM_006722214.2:c.3332A>G	XP_006722277.1:p.Glu1111Gly
XM_006722215.2:c.2627A>G	XP_006722278.1:p.Glu876Gly
XM_006722216.2:c.2156A>G	XP_006722279.1:p.Glu719Gly
XM_011525544.1:c.3332A>G	XP_011523846.1:p.Glu1111Gly
XM_011525545.1:c.3332A>G	XP_011523847.1:p.Glu1111Gly
XR_934629.1:n.3323A>G
NM_001330447.1:c.3251A>G	NP_001317376.1:p.Glu1084Gly
XM_005257888.5:c.3329A>G	XP_005257945.1:p.Glu1110Gly
XM_006722214.4:c.3332A>G	XP_006722277.1:p.Glu1111Gly
XM_006722215.3:c.2627A>G	XP_006722278.1:p.Glu876Gly
XM_006722216.3:c.2156A>G	XP_006722279.1:p.Glu719Gly
XM_011525544.2:c.3332A>G	XP_011523846.1:p.Glu1111Gly
XM_017025477.2:c.2543A>G	XP_016880966.1:p.Glu848Gly
XM_017025478.1:c.2075A>G	XP_016880967.1:p.Glu692Gly
XR_001752712.2:n.3423A>G
XR_001752713.2:n.3275A>G
XR_001752714.2:n.3191A>G
NM_014877.4:c.3248A>G MANE Select	NP_055692.3:p.Glu1083Gly
NM_001330447.2:c.3251A>G	NP_001317376.2:p.Glu1084Gly