Canonical Allele Identifier: CA400711409

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124928T>C (hg19) ; chr17:g.67128812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128812T>C , CM000679.2:g.67128812T>C	GRCh38
NC_000017.10:g.65124928T>C , CM000679.1:g.65124928T>C	GRCh37
NC_000017.9:g.62555390T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3226A>G MANE Select	ENSP00000351524.5:p.Ser1076Gly
ENST00000358691.9:c.3226A>G	ENSP00000351524.5:p.Ser1076Gly
ENST00000579953.5:c.3229A>G	ENSP00000463727.1:p.Ser1077Gly
ENST00000580168.5:c.3229A>G	ENSP00000464512.1:p.Ser1077Gly
NM_014877.3:c.3226A>G	NP_055692.2:p.Ser1076Gly
XM_005257888.3:c.3307A>G	XP_005257945.1:p.Ser1103Gly
XM_005257889.3:c.3229A>G	XP_005257946.1:p.Ser1077Gly
XM_005257890.3:c.3205A>G	XP_005257947.1:p.Ser1069Gly
XM_006722214.2:c.3310A>G	XP_006722277.1:p.Ser1104Gly
XM_006722215.2:c.2605A>G	XP_006722278.1:p.Ser869Gly
XM_006722216.2:c.2134A>G	XP_006722279.1:p.Ser712Gly
XM_011525544.1:c.3310A>G	XP_011523846.1:p.Ser1104Gly
XM_011525545.1:c.3310A>G	XP_011523847.1:p.Ser1104Gly
XR_934629.1:n.3301A>G
NM_001330447.1:c.3229A>G	NP_001317376.1:p.Ser1077Gly
XM_005257888.5:c.3307A>G	XP_005257945.1:p.Ser1103Gly
XM_006722214.4:c.3310A>G	XP_006722277.1:p.Ser1104Gly
XM_006722215.3:c.2605A>G	XP_006722278.1:p.Ser869Gly
XM_006722216.3:c.2134A>G	XP_006722279.1:p.Ser712Gly
XM_011525544.2:c.3310A>G	XP_011523846.1:p.Ser1104Gly
XM_017025477.2:c.2521A>G	XP_016880966.1:p.Ser841Gly
XM_017025478.1:c.2053A>G	XP_016880967.1:p.Ser685Gly
XR_001752712.2:n.3401A>G
XR_001752713.2:n.3253A>G
XR_001752714.2:n.3169A>G
NM_014877.4:c.3226A>G MANE Select	NP_055692.3:p.Ser1076Gly
NM_001330447.2:c.3229A>G	NP_001317376.2:p.Ser1077Gly