Canonical Allele Identifier: CA400711262

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124875T>A (hg19) ; chr17:g.67128759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128759T>A , CM000679.2:g.67128759T>A	GRCh38
NC_000017.10:g.65124875T>A , CM000679.1:g.65124875T>A	GRCh37
NC_000017.9:g.62555337T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3279A>T MANE Select	ENSP00000351524.5:p.Glu1093Asp
ENST00000358691.9:c.3279A>T	ENSP00000351524.5:p.Glu1093Asp
ENST00000579953.5:c.3282A>T	ENSP00000463727.1:p.Glu1094Asp
ENST00000580168.5:c.3282A>T	ENSP00000464512.1:p.Glu1094Asp
NM_014877.3:c.3279A>T	NP_055692.2:p.Glu1093Asp
XM_005257888.3:c.3360A>T	XP_005257945.1:p.Glu1120Asp
XM_005257889.3:c.3282A>T	XP_005257946.1:p.Glu1094Asp
XM_005257890.3:c.3258A>T	XP_005257947.1:p.Glu1086Asp
XM_006722214.2:c.3363A>T	XP_006722277.1:p.Glu1121Asp
XM_006722215.2:c.2658A>T	XP_006722278.1:p.Glu886Asp
XM_006722216.2:c.2187A>T	XP_006722279.1:p.Glu729Asp
XM_011525544.1:c.3363A>T	XP_011523846.1:p.Glu1121Asp
XM_011525545.1:c.3363A>T	XP_011523847.1:p.Glu1121Asp
XR_934629.1:n.3354A>T
NM_001330447.1:c.3282A>T	NP_001317376.1:p.Glu1094Asp
XM_005257888.5:c.3360A>T	XP_005257945.1:p.Glu1120Asp
XM_006722214.4:c.3363A>T	XP_006722277.1:p.Glu1121Asp
XM_006722215.3:c.2658A>T	XP_006722278.1:p.Glu886Asp
XM_006722216.3:c.2187A>T	XP_006722279.1:p.Glu729Asp
XM_011525544.2:c.3363A>T	XP_011523846.1:p.Glu1121Asp
XM_017025477.2:c.2574A>T	XP_016880966.1:p.Glu858Asp
XM_017025478.1:c.2106A>T	XP_016880967.1:p.Glu702Asp
XR_001752712.2:n.3454A>T
XR_001752713.2:n.3306A>T
XR_001752714.2:n.3222A>T
NM_014877.4:c.3279A>T MANE Select	NP_055692.3:p.Glu1093Asp
NM_001330447.2:c.3282A>T	NP_001317376.2:p.Glu1094Asp