Canonical Allele Identifier: CA400711414

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124931T>G (hg19) ; chr17:g.67128815T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128815T>G , CM000679.2:g.67128815T>G	GRCh38
NC_000017.10:g.65124931T>G , CM000679.1:g.65124931T>G	GRCh37
NC_000017.9:g.62555393T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3223A>C MANE Select	ENSP00000351524.5:p.Ser1075Arg
ENST00000358691.9:c.3223A>C	ENSP00000351524.5:p.Ser1075Arg
ENST00000579953.5:c.3226A>C	ENSP00000463727.1:p.Ser1076Arg
ENST00000580168.5:c.3226A>C	ENSP00000464512.1:p.Ser1076Arg
NM_014877.3:c.3223A>C	NP_055692.2:p.Ser1075Arg
XM_005257888.3:c.3304A>C	XP_005257945.1:p.Ser1102Arg
XM_005257889.3:c.3226A>C	XP_005257946.1:p.Ser1076Arg
XM_005257890.3:c.3202A>C	XP_005257947.1:p.Ser1068Arg
XM_006722214.2:c.3307A>C	XP_006722277.1:p.Ser1103Arg
XM_006722215.2:c.2602A>C	XP_006722278.1:p.Ser868Arg
XM_006722216.2:c.2131A>C	XP_006722279.1:p.Ser711Arg
XM_011525544.1:c.3307A>C	XP_011523846.1:p.Ser1103Arg
XM_011525545.1:c.3307A>C	XP_011523847.1:p.Ser1103Arg
XR_934629.1:n.3298A>C
NM_001330447.1:c.3226A>C	NP_001317376.1:p.Ser1076Arg
XM_005257888.5:c.3304A>C	XP_005257945.1:p.Ser1102Arg
XM_006722214.4:c.3307A>C	XP_006722277.1:p.Ser1103Arg
XM_006722215.3:c.2602A>C	XP_006722278.1:p.Ser868Arg
XM_006722216.3:c.2131A>C	XP_006722279.1:p.Ser711Arg
XM_011525544.2:c.3307A>C	XP_011523846.1:p.Ser1103Arg
XM_017025477.2:c.2518A>C	XP_016880966.1:p.Ser840Arg
XM_017025478.1:c.2050A>C	XP_016880967.1:p.Ser684Arg
XR_001752712.2:n.3398A>C
XR_001752713.2:n.3250A>C
XR_001752714.2:n.3166A>C
NM_014877.4:c.3223A>C MANE Select	NP_055692.3:p.Ser1075Arg
NM_001330447.2:c.3226A>C	NP_001317376.2:p.Ser1076Arg