Canonical Allele Identifier: CA400711060

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124836T>A (hg19) ; chr17:g.67128720T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128720T>A , CM000679.2:g.67128720T>A	GRCh38
NC_000017.10:g.65124836T>A , CM000679.1:g.65124836T>A	GRCh37
NC_000017.9:g.62555298T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358691.10:c.3318A>T MANE Select	ENSP00000351524.5:p.Glu1106Asp
ENST00000358691.9:c.3318A>T	ENSP00000351524.5:p.Glu1106Asp
ENST00000579953.5:c.3321A>T	ENSP00000463727.1:p.Glu1107Asp
ENST00000580168.5:c.3321A>T	ENSP00000464512.1:p.Glu1107Asp
NM_014877.3:c.3318A>T	NP_055692.2:p.Glu1106Asp
XM_005257888.3:c.3399A>T	XP_005257945.1:p.Glu1133Asp
XM_005257889.3:c.3321A>T	XP_005257946.1:p.Glu1107Asp
XM_005257890.3:c.3297A>T	XP_005257947.1:p.Glu1099Asp
XM_006722214.2:c.3402A>T	XP_006722277.1:p.Glu1134Asp
XM_006722215.2:c.2697A>T	XP_006722278.1:p.Glu899Asp
XM_006722216.2:c.2226A>T	XP_006722279.1:p.Glu742Asp
XM_011525544.1:c.3402A>T	XP_011523846.1:p.Glu1134Asp
XM_011525545.1:c.3402A>T	XP_011523847.1:p.Glu1134Asp
XR_934629.1:n.3393A>T
NM_001330447.1:c.3321A>T	NP_001317376.1:p.Glu1107Asp
XM_005257888.5:c.3399A>T	XP_005257945.1:p.Glu1133Asp
XM_006722214.4:c.3402A>T	XP_006722277.1:p.Glu1134Asp
XM_006722215.3:c.2697A>T	XP_006722278.1:p.Glu899Asp
XM_006722216.3:c.2226A>T	XP_006722279.1:p.Glu742Asp
XM_011525544.2:c.3402A>T	XP_011523846.1:p.Glu1134Asp
XM_017025477.2:c.2613A>T	XP_016880966.1:p.Glu871Asp
XM_017025478.1:c.2145A>T	XP_016880967.1:p.Glu715Asp
XR_001752712.2:n.3493A>T
XR_001752713.2:n.3345A>T
XR_001752714.2:n.3261A>T
NM_014877.4:c.3318A>T MANE Select	NP_055692.3:p.Glu1106Asp
NM_001330447.2:c.3321A>T	NP_001317376.2:p.Glu1107Asp