Canonical Allele Identifier: CA400711283

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124878T>G (hg19) ; chr17:g.67128762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128762T>G , CM000679.2:g.67128762T>G	GRCh38
NC_000017.10:g.65124878T>G , CM000679.1:g.65124878T>G	GRCh37
NC_000017.9:g.62555340T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3276A>C MANE Select	ENSP00000351524.5:p.Leu1092Phe
ENST00000358691.9:c.3276A>C	ENSP00000351524.5:p.Leu1092Phe
ENST00000579953.5:c.3279A>C	ENSP00000463727.1:p.Leu1093Phe
ENST00000580168.5:c.3279A>C	ENSP00000464512.1:p.Leu1093Phe
NM_014877.3:c.3276A>C	NP_055692.2:p.Leu1092Phe
XM_005257888.3:c.3357A>C	XP_005257945.1:p.Leu1119Phe
XM_005257889.3:c.3279A>C	XP_005257946.1:p.Leu1093Phe
XM_005257890.3:c.3255A>C	XP_005257947.1:p.Leu1085Phe
XM_006722214.2:c.3360A>C	XP_006722277.1:p.Leu1120Phe
XM_006722215.2:c.2655A>C	XP_006722278.1:p.Leu885Phe
XM_006722216.2:c.2184A>C	XP_006722279.1:p.Leu728Phe
XM_011525544.1:c.3360A>C	XP_011523846.1:p.Leu1120Phe
XM_011525545.1:c.3360A>C	XP_011523847.1:p.Leu1120Phe
XR_934629.1:n.3351A>C
NM_001330447.1:c.3279A>C	NP_001317376.1:p.Leu1093Phe
XM_005257888.5:c.3357A>C	XP_005257945.1:p.Leu1119Phe
XM_006722214.4:c.3360A>C	XP_006722277.1:p.Leu1120Phe
XM_006722215.3:c.2655A>C	XP_006722278.1:p.Leu885Phe
XM_006722216.3:c.2184A>C	XP_006722279.1:p.Leu728Phe
XM_011525544.2:c.3360A>C	XP_011523846.1:p.Leu1120Phe
XM_017025477.2:c.2571A>C	XP_016880966.1:p.Leu857Phe
XM_017025478.1:c.2103A>C	XP_016880967.1:p.Leu701Phe
XR_001752712.2:n.3451A>C
XR_001752713.2:n.3303A>C
XR_001752714.2:n.3219A>C
NM_014877.4:c.3276A>C MANE Select	NP_055692.3:p.Leu1092Phe
NM_001330447.2:c.3279A>C	NP_001317376.2:p.Leu1093Phe