Canonical Allele Identifier: CA400711100

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124844C>T (hg19) ; chr17:g.67128728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128728C>T , CM000679.2:g.67128728C>T	GRCh38
NC_000017.10:g.65124844C>T , CM000679.1:g.65124844C>T	GRCh37
NC_000017.9:g.62555306C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3310G>A MANE Select	ENSP00000351524.5:p.Ala1104Thr
ENST00000358691.9:c.3310G>A	ENSP00000351524.5:p.Ala1104Thr
ENST00000579953.5:c.3313G>A	ENSP00000463727.1:p.Ala1105Thr
ENST00000580168.5:c.3313G>A	ENSP00000464512.1:p.Ala1105Thr
NM_014877.3:c.3310G>A	NP_055692.2:p.Ala1104Thr
XM_005257888.3:c.3391G>A	XP_005257945.1:p.Ala1131Thr
XM_005257889.3:c.3313G>A	XP_005257946.1:p.Ala1105Thr
XM_005257890.3:c.3289G>A	XP_005257947.1:p.Ala1097Thr
XM_006722214.2:c.3394G>A	XP_006722277.1:p.Ala1132Thr
XM_006722215.2:c.2689G>A	XP_006722278.1:p.Ala897Thr
XM_006722216.2:c.2218G>A	XP_006722279.1:p.Ala740Thr
XM_011525544.1:c.3394G>A	XP_011523846.1:p.Ala1132Thr
XM_011525545.1:c.3394G>A	XP_011523847.1:p.Ala1132Thr
XR_934629.1:n.3385G>A
NM_001330447.1:c.3313G>A	NP_001317376.1:p.Ala1105Thr
XM_005257888.5:c.3391G>A	XP_005257945.1:p.Ala1131Thr
XM_006722214.4:c.3394G>A	XP_006722277.1:p.Ala1132Thr
XM_006722215.3:c.2689G>A	XP_006722278.1:p.Ala897Thr
XM_006722216.3:c.2218G>A	XP_006722279.1:p.Ala740Thr
XM_011525544.2:c.3394G>A	XP_011523846.1:p.Ala1132Thr
XM_017025477.2:c.2605G>A	XP_016880966.1:p.Ala869Thr
XM_017025478.1:c.2137G>A	XP_016880967.1:p.Ala713Thr
XR_001752712.2:n.3485G>A
XR_001752713.2:n.3337G>A
XR_001752714.2:n.3253G>A
NM_014877.4:c.3310G>A MANE Select	NP_055692.3:p.Ala1104Thr
NM_001330447.2:c.3313G>A	NP_001317376.2:p.Ala1105Thr