Canonical Allele Identifier: CA501487682

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124899G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128783G>A , CM000679.2:g.67128783G>A	GRCh38
NC_000017.10:g.65124899G>A , CM000679.1:g.65124899G>A	GRCh37
NC_000017.9:g.62555361G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3255C>T MANE Select	ENSP00000351524.5:p.Ile1085=
ENST00000358691.9:c.3255C>T	ENSP00000351524.5:p.Ile1085=
ENST00000579953.5:c.3258C>T	ENSP00000463727.1:p.Ile1086=
ENST00000580168.5:c.3258C>T	ENSP00000464512.1:p.Ile1086=
NM_014877.3:c.3255C>T	NP_055692.2:p.Ile1085=
XM_005257888.3:c.3336C>T	XP_005257945.1:p.Ile1112=
XM_005257889.3:c.3258C>T	XP_005257946.1:p.Ile1086=
XM_005257890.3:c.3234C>T	XP_005257947.1:p.Ile1078=
XM_006722214.2:c.3339C>T	XP_006722277.1:p.Ile1113=
XM_006722215.2:c.2634C>T	XP_006722278.1:p.Ile878=
XM_006722216.2:c.2163C>T	XP_006722279.1:p.Ile721=
XM_011525544.1:c.3339C>T	XP_011523846.1:p.Ile1113=
XM_011525545.1:c.3339C>T	XP_011523847.1:p.Ile1113=
XR_934629.1:n.3330C>T
NM_001330447.1:c.3258C>T	NP_001317376.1:p.Ile1086=
XM_005257888.5:c.3336C>T	XP_005257945.1:p.Ile1112=
XM_006722214.4:c.3339C>T	XP_006722277.1:p.Ile1113=
XM_006722215.3:c.2634C>T	XP_006722278.1:p.Ile878=
XM_006722216.3:c.2163C>T	XP_006722279.1:p.Ile721=
XM_011525544.2:c.3339C>T	XP_011523846.1:p.Ile1113=
XM_017025477.2:c.2550C>T	XP_016880966.1:p.Ile850=
XM_017025478.1:c.2082C>T	XP_016880967.1:p.Ile694=
XR_001752712.2:n.3430C>T
XR_001752713.2:n.3282C>T
XR_001752714.2:n.3198C>T
NM_014877.4:c.3255C>T MANE Select	NP_055692.3:p.Ile1085=
NM_001330447.2:c.3258C>T	NP_001317376.2:p.Ile1086=