Canonical Allele Identifier: CA400711373

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124912G>T (hg19) ; chr17:g.67128796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128796G>T , CM000679.2:g.67128796G>T	GRCh38
NC_000017.10:g.65124912G>T , CM000679.1:g.65124912G>T	GRCh37
NC_000017.9:g.62555374G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3242C>A MANE Select	ENSP00000351524.5:p.Thr1081Asn
ENST00000358691.9:c.3242C>A	ENSP00000351524.5:p.Thr1081Asn
ENST00000579953.5:c.3245C>A	ENSP00000463727.1:p.Thr1082Asn
ENST00000580168.5:c.3245C>A	ENSP00000464512.1:p.Thr1082Asn
NM_014877.3:c.3242C>A	NP_055692.2:p.Thr1081Asn
XM_005257888.3:c.3323C>A	XP_005257945.1:p.Thr1108Asn
XM_005257889.3:c.3245C>A	XP_005257946.1:p.Thr1082Asn
XM_005257890.3:c.3221C>A	XP_005257947.1:p.Thr1074Asn
XM_006722214.2:c.3326C>A	XP_006722277.1:p.Thr1109Asn
XM_006722215.2:c.2621C>A	XP_006722278.1:p.Thr874Asn
XM_006722216.2:c.2150C>A	XP_006722279.1:p.Thr717Asn
XM_011525544.1:c.3326C>A	XP_011523846.1:p.Thr1109Asn
XM_011525545.1:c.3326C>A	XP_011523847.1:p.Thr1109Asn
XR_934629.1:n.3317C>A
NM_001330447.1:c.3245C>A	NP_001317376.1:p.Thr1082Asn
XM_005257888.5:c.3323C>A	XP_005257945.1:p.Thr1108Asn
XM_006722214.4:c.3326C>A	XP_006722277.1:p.Thr1109Asn
XM_006722215.3:c.2621C>A	XP_006722278.1:p.Thr874Asn
XM_006722216.3:c.2150C>A	XP_006722279.1:p.Thr717Asn
XM_011525544.2:c.3326C>A	XP_011523846.1:p.Thr1109Asn
XM_017025477.2:c.2537C>A	XP_016880966.1:p.Thr846Asn
XM_017025478.1:c.2069C>A	XP_016880967.1:p.Thr690Asn
XR_001752712.2:n.3417C>A
XR_001752713.2:n.3269C>A
XR_001752714.2:n.3185C>A
NM_014877.4:c.3242C>A MANE Select	NP_055692.3:p.Thr1081Asn
NM_001330447.2:c.3245C>A	NP_001317376.2:p.Thr1082Asn