Canonical Allele Identifier: CA400711051

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124834A>G (hg19) ; chr17:g.67128718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128718A>G , CM000679.2:g.67128718A>G	GRCh38
NC_000017.10:g.65124834A>G , CM000679.1:g.65124834A>G	GRCh37
NC_000017.9:g.62555296A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358691.10:c.3320T>C MANE Select	ENSP00000351524.5:p.Phe1107Ser
ENST00000358691.9:c.3320T>C	ENSP00000351524.5:p.Phe1107Ser
ENST00000579953.5:c.3323T>C	ENSP00000463727.1:p.Phe1108Ser
ENST00000580168.5:c.3323T>C	ENSP00000464512.1:p.Phe1108Ser
NM_014877.3:c.3320T>C	NP_055692.2:p.Phe1107Ser
XM_005257888.3:c.3401T>C	XP_005257945.1:p.Phe1134Ser
XM_005257889.3:c.3323T>C	XP_005257946.1:p.Phe1108Ser
XM_005257890.3:c.3299T>C	XP_005257947.1:p.Phe1100Ser
XM_006722214.2:c.3404T>C	XP_006722277.1:p.Phe1135Ser
XM_006722215.2:c.2699T>C	XP_006722278.1:p.Phe900Ser
XM_006722216.2:c.2228T>C	XP_006722279.1:p.Phe743Ser
XM_011525544.1:c.3404T>C	XP_011523846.1:p.Phe1135Ser
XM_011525545.1:c.3404T>C	XP_011523847.1:p.Phe1135Ser
XR_934629.1:n.3395T>C
NM_001330447.1:c.3323T>C	NP_001317376.1:p.Phe1108Ser
XM_005257888.5:c.3401T>C	XP_005257945.1:p.Phe1134Ser
XM_006722214.4:c.3404T>C	XP_006722277.1:p.Phe1135Ser
XM_006722215.3:c.2699T>C	XP_006722278.1:p.Phe900Ser
XM_006722216.3:c.2228T>C	XP_006722279.1:p.Phe743Ser
XM_011525544.2:c.3404T>C	XP_011523846.1:p.Phe1135Ser
XM_017025477.2:c.2615T>C	XP_016880966.1:p.Phe872Ser
XM_017025478.1:c.2147T>C	XP_016880967.1:p.Phe716Ser
XR_001752712.2:n.3495T>C
XR_001752713.2:n.3347T>C
XR_001752714.2:n.3263T>C
NM_014877.4:c.3320T>C MANE Select	NP_055692.3:p.Phe1107Ser
NM_001330447.2:c.3323T>C	NP_001317376.2:p.Phe1108Ser