Canonical Allele Identifier: CA400711073

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124838C>G (hg19) ; chr17:g.67128722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128722C>G , CM000679.2:g.67128722C>G	GRCh38
NC_000017.10:g.65124838C>G , CM000679.1:g.65124838C>G	GRCh37
NC_000017.9:g.62555300C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358691.10:c.3316G>C MANE Select	ENSP00000351524.5:p.Glu1106Gln
ENST00000358691.9:c.3316G>C	ENSP00000351524.5:p.Glu1106Gln
ENST00000579953.5:c.3319G>C	ENSP00000463727.1:p.Glu1107Gln
ENST00000580168.5:c.3319G>C	ENSP00000464512.1:p.Glu1107Gln
NM_014877.3:c.3316G>C	NP_055692.2:p.Glu1106Gln
XM_005257888.3:c.3397G>C	XP_005257945.1:p.Glu1133Gln
XM_005257889.3:c.3319G>C	XP_005257946.1:p.Glu1107Gln
XM_005257890.3:c.3295G>C	XP_005257947.1:p.Glu1099Gln
XM_006722214.2:c.3400G>C	XP_006722277.1:p.Glu1134Gln
XM_006722215.2:c.2695G>C	XP_006722278.1:p.Glu899Gln
XM_006722216.2:c.2224G>C	XP_006722279.1:p.Glu742Gln
XM_011525544.1:c.3400G>C	XP_011523846.1:p.Glu1134Gln
XM_011525545.1:c.3400G>C	XP_011523847.1:p.Glu1134Gln
XR_934629.1:n.3391G>C
NM_001330447.1:c.3319G>C	NP_001317376.1:p.Glu1107Gln
XM_005257888.5:c.3397G>C	XP_005257945.1:p.Glu1133Gln
XM_006722214.4:c.3400G>C	XP_006722277.1:p.Glu1134Gln
XM_006722215.3:c.2695G>C	XP_006722278.1:p.Glu899Gln
XM_006722216.3:c.2224G>C	XP_006722279.1:p.Glu742Gln
XM_011525544.2:c.3400G>C	XP_011523846.1:p.Glu1134Gln
XM_017025477.2:c.2611G>C	XP_016880966.1:p.Glu871Gln
XM_017025478.1:c.2143G>C	XP_016880967.1:p.Glu715Gln
XR_001752712.2:n.3491G>C
XR_001752713.2:n.3343G>C
XR_001752714.2:n.3259G>C
NM_014877.4:c.3316G>C MANE Select	NP_055692.3:p.Glu1106Gln
NM_001330447.2:c.3319G>C	NP_001317376.2:p.Glu1107Gln