Canonical Allele Identifier: CA400711369

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124910A>G (hg19) ; chr17:g.67128794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128794A>G , CM000679.2:g.67128794A>G	GRCh38
NC_000017.10:g.65124910A>G , CM000679.1:g.65124910A>G	GRCh37
NC_000017.9:g.62555372A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3244T>C MANE Select	ENSP00000351524.5:p.Phe1082Leu
ENST00000358691.9:c.3244T>C	ENSP00000351524.5:p.Phe1082Leu
ENST00000579953.5:c.3247T>C	ENSP00000463727.1:p.Phe1083Leu
ENST00000580168.5:c.3247T>C	ENSP00000464512.1:p.Phe1083Leu
NM_014877.3:c.3244T>C	NP_055692.2:p.Phe1082Leu
XM_005257888.3:c.3325T>C	XP_005257945.1:p.Phe1109Leu
XM_005257889.3:c.3247T>C	XP_005257946.1:p.Phe1083Leu
XM_005257890.3:c.3223T>C	XP_005257947.1:p.Phe1075Leu
XM_006722214.2:c.3328T>C	XP_006722277.1:p.Phe1110Leu
XM_006722215.2:c.2623T>C	XP_006722278.1:p.Phe875Leu
XM_006722216.2:c.2152T>C	XP_006722279.1:p.Phe718Leu
XM_011525544.1:c.3328T>C	XP_011523846.1:p.Phe1110Leu
XM_011525545.1:c.3328T>C	XP_011523847.1:p.Phe1110Leu
XR_934629.1:n.3319T>C
NM_001330447.1:c.3247T>C	NP_001317376.1:p.Phe1083Leu
XM_005257888.5:c.3325T>C	XP_005257945.1:p.Phe1109Leu
XM_006722214.4:c.3328T>C	XP_006722277.1:p.Phe1110Leu
XM_006722215.3:c.2623T>C	XP_006722278.1:p.Phe875Leu
XM_006722216.3:c.2152T>C	XP_006722279.1:p.Phe718Leu
XM_011525544.2:c.3328T>C	XP_011523846.1:p.Phe1110Leu
XM_017025477.2:c.2539T>C	XP_016880966.1:p.Phe847Leu
XM_017025478.1:c.2071T>C	XP_016880967.1:p.Phe691Leu
XR_001752712.2:n.3419T>C
XR_001752713.2:n.3271T>C
XR_001752714.2:n.3187T>C
NM_014877.4:c.3244T>C MANE Select	NP_055692.3:p.Phe1082Leu
NM_001330447.2:c.3247T>C	NP_001317376.2:p.Phe1083Leu