Canonical Allele Identifier: CA400711312

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124887T>G (hg19) ; chr17:g.67128771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128771T>G , CM000679.2:g.67128771T>G	GRCh38
NC_000017.10:g.65124887T>G , CM000679.1:g.65124887T>G	GRCh37
NC_000017.9:g.62555349T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3267A>C MANE Select	ENSP00000351524.5:p.Leu1089Phe
ENST00000358691.9:c.3267A>C	ENSP00000351524.5:p.Leu1089Phe
ENST00000579953.5:c.3270A>C	ENSP00000463727.1:p.Leu1090Phe
ENST00000580168.5:c.3270A>C	ENSP00000464512.1:p.Leu1090Phe
NM_014877.3:c.3267A>C	NP_055692.2:p.Leu1089Phe
XM_005257888.3:c.3348A>C	XP_005257945.1:p.Leu1116Phe
XM_005257889.3:c.3270A>C	XP_005257946.1:p.Leu1090Phe
XM_005257890.3:c.3246A>C	XP_005257947.1:p.Leu1082Phe
XM_006722214.2:c.3351A>C	XP_006722277.1:p.Leu1117Phe
XM_006722215.2:c.2646A>C	XP_006722278.1:p.Leu882Phe
XM_006722216.2:c.2175A>C	XP_006722279.1:p.Leu725Phe
XM_011525544.1:c.3351A>C	XP_011523846.1:p.Leu1117Phe
XM_011525545.1:c.3351A>C	XP_011523847.1:p.Leu1117Phe
XR_934629.1:n.3342A>C
NM_001330447.1:c.3270A>C	NP_001317376.1:p.Leu1090Phe
XM_005257888.5:c.3348A>C	XP_005257945.1:p.Leu1116Phe
XM_006722214.4:c.3351A>C	XP_006722277.1:p.Leu1117Phe
XM_006722215.3:c.2646A>C	XP_006722278.1:p.Leu882Phe
XM_006722216.3:c.2175A>C	XP_006722279.1:p.Leu725Phe
XM_011525544.2:c.3351A>C	XP_011523846.1:p.Leu1117Phe
XM_017025477.2:c.2562A>C	XP_016880966.1:p.Leu854Phe
XM_017025478.1:c.2094A>C	XP_016880967.1:p.Leu698Phe
XR_001752712.2:n.3442A>C
XR_001752713.2:n.3294A>C
XR_001752714.2:n.3210A>C
NM_014877.4:c.3267A>C MANE Select	NP_055692.3:p.Leu1089Phe
NM_001330447.2:c.3270A>C	NP_001317376.2:p.Leu1090Phe