Canonical Allele Identifier: CA400711293

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124880A>T (hg19) ; chr17:g.67128764A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128764A>T , CM000679.2:g.67128764A>T	GRCh38
NC_000017.10:g.65124880A>T , CM000679.1:g.65124880A>T	GRCh37
NC_000017.9:g.62555342A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3274T>A MANE Select	ENSP00000351524.5:p.Leu1092Ile
ENST00000358691.9:c.3274T>A	ENSP00000351524.5:p.Leu1092Ile
ENST00000579953.5:c.3277T>A	ENSP00000463727.1:p.Leu1093Ile
ENST00000580168.5:c.3277T>A	ENSP00000464512.1:p.Leu1093Ile
NM_014877.3:c.3274T>A	NP_055692.2:p.Leu1092Ile
XM_005257888.3:c.3355T>A	XP_005257945.1:p.Leu1119Ile
XM_005257889.3:c.3277T>A	XP_005257946.1:p.Leu1093Ile
XM_005257890.3:c.3253T>A	XP_005257947.1:p.Leu1085Ile
XM_006722214.2:c.3358T>A	XP_006722277.1:p.Leu1120Ile
XM_006722215.2:c.2653T>A	XP_006722278.1:p.Leu885Ile
XM_006722216.2:c.2182T>A	XP_006722279.1:p.Leu728Ile
XM_011525544.1:c.3358T>A	XP_011523846.1:p.Leu1120Ile
XM_011525545.1:c.3358T>A	XP_011523847.1:p.Leu1120Ile
XR_934629.1:n.3349T>A
NM_001330447.1:c.3277T>A	NP_001317376.1:p.Leu1093Ile
XM_005257888.5:c.3355T>A	XP_005257945.1:p.Leu1119Ile
XM_006722214.4:c.3358T>A	XP_006722277.1:p.Leu1120Ile
XM_006722215.3:c.2653T>A	XP_006722278.1:p.Leu885Ile
XM_006722216.3:c.2182T>A	XP_006722279.1:p.Leu728Ile
XM_011525544.2:c.3358T>A	XP_011523846.1:p.Leu1120Ile
XM_017025477.2:c.2569T>A	XP_016880966.1:p.Leu857Ile
XM_017025478.1:c.2101T>A	XP_016880967.1:p.Leu701Ile
XR_001752712.2:n.3449T>A
XR_001752713.2:n.3301T>A
XR_001752714.2:n.3217T>A
NM_014877.4:c.3274T>A MANE Select	NP_055692.3:p.Leu1092Ile
NM_001330447.2:c.3277T>A	NP_001317376.2:p.Leu1093Ile