Canonical Allele Identifier: CA400711218

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124867T>C (hg19) ; chr17:g.67128751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128751T>C , CM000679.2:g.67128751T>C	GRCh38
NC_000017.10:g.65124867T>C , CM000679.1:g.65124867T>C	GRCh37
NC_000017.9:g.62555329T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3287A>G MANE Select	ENSP00000351524.5:p.Lys1096Arg
ENST00000358691.9:c.3287A>G	ENSP00000351524.5:p.Lys1096Arg
ENST00000579953.5:c.3290A>G	ENSP00000463727.1:p.Lys1097Arg
ENST00000580168.5:c.3290A>G	ENSP00000464512.1:p.Lys1097Arg
NM_014877.3:c.3287A>G	NP_055692.2:p.Lys1096Arg
XM_005257888.3:c.3368A>G	XP_005257945.1:p.Lys1123Arg
XM_005257889.3:c.3290A>G	XP_005257946.1:p.Lys1097Arg
XM_005257890.3:c.3266A>G	XP_005257947.1:p.Lys1089Arg
XM_006722214.2:c.3371A>G	XP_006722277.1:p.Lys1124Arg
XM_006722215.2:c.2666A>G	XP_006722278.1:p.Lys889Arg
XM_006722216.2:c.2195A>G	XP_006722279.1:p.Lys732Arg
XM_011525544.1:c.3371A>G	XP_011523846.1:p.Lys1124Arg
XM_011525545.1:c.3371A>G	XP_011523847.1:p.Lys1124Arg
XR_934629.1:n.3362A>G
NM_001330447.1:c.3290A>G	NP_001317376.1:p.Lys1097Arg
XM_005257888.5:c.3368A>G	XP_005257945.1:p.Lys1123Arg
XM_006722214.4:c.3371A>G	XP_006722277.1:p.Lys1124Arg
XM_006722215.3:c.2666A>G	XP_006722278.1:p.Lys889Arg
XM_006722216.3:c.2195A>G	XP_006722279.1:p.Lys732Arg
XM_011525544.2:c.3371A>G	XP_011523846.1:p.Lys1124Arg
XM_017025477.2:c.2582A>G	XP_016880966.1:p.Lys861Arg
XM_017025478.1:c.2114A>G	XP_016880967.1:p.Lys705Arg
XR_001752712.2:n.3462A>G
XR_001752713.2:n.3314A>G
XR_001752714.2:n.3230A>G
NM_014877.4:c.3287A>G MANE Select	NP_055692.3:p.Lys1096Arg
NM_001330447.2:c.3290A>G	NP_001317376.2:p.Lys1097Arg