Canonical Allele Identifier: CA400711203

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124864G>T (hg19) ; chr17:g.67128748G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128748G>T , CM000679.2:g.67128748G>T	GRCh38
NC_000017.10:g.65124864G>T , CM000679.1:g.65124864G>T	GRCh37
NC_000017.9:g.62555326G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3290C>A MANE Select	ENSP00000351524.5:p.Thr1097Lys
ENST00000358691.9:c.3290C>A	ENSP00000351524.5:p.Thr1097Lys
ENST00000579953.5:c.3293C>A	ENSP00000463727.1:p.Thr1098Lys
ENST00000580168.5:c.3293C>A	ENSP00000464512.1:p.Thr1098Lys
NM_014877.3:c.3290C>A	NP_055692.2:p.Thr1097Lys
XM_005257888.3:c.3371C>A	XP_005257945.1:p.Thr1124Lys
XM_005257889.3:c.3293C>A	XP_005257946.1:p.Thr1098Lys
XM_005257890.3:c.3269C>A	XP_005257947.1:p.Thr1090Lys
XM_006722214.2:c.3374C>A	XP_006722277.1:p.Thr1125Lys
XM_006722215.2:c.2669C>A	XP_006722278.1:p.Thr890Lys
XM_006722216.2:c.2198C>A	XP_006722279.1:p.Thr733Lys
XM_011525544.1:c.3374C>A	XP_011523846.1:p.Thr1125Lys
XM_011525545.1:c.3374C>A	XP_011523847.1:p.Thr1125Lys
XR_934629.1:n.3365C>A
NM_001330447.1:c.3293C>A	NP_001317376.1:p.Thr1098Lys
XM_005257888.5:c.3371C>A	XP_005257945.1:p.Thr1124Lys
XM_006722214.4:c.3374C>A	XP_006722277.1:p.Thr1125Lys
XM_006722215.3:c.2669C>A	XP_006722278.1:p.Thr890Lys
XM_006722216.3:c.2198C>A	XP_006722279.1:p.Thr733Lys
XM_011525544.2:c.3374C>A	XP_011523846.1:p.Thr1125Lys
XM_017025477.2:c.2585C>A	XP_016880966.1:p.Thr862Lys
XM_017025478.1:c.2117C>A	XP_016880967.1:p.Thr706Lys
XR_001752712.2:n.3465C>A
XR_001752713.2:n.3317C>A
XR_001752714.2:n.3233C>A
NM_014877.4:c.3290C>A MANE Select	NP_055692.3:p.Thr1097Lys
NM_001330447.2:c.3293C>A	NP_001317376.2:p.Thr1098Lys