Canonical Allele Identifier: CA501487675

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124889A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128773A>G , CM000679.2:g.67128773A>G	GRCh38
NC_000017.10:g.65124889A>G , CM000679.1:g.65124889A>G	GRCh37
NC_000017.9:g.62555351A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3265T>C MANE Select	ENSP00000351524.5:p.Leu1089=
ENST00000358691.9:c.3265T>C	ENSP00000351524.5:p.Leu1089=
ENST00000579953.5:c.3268T>C	ENSP00000463727.1:p.Leu1090=
ENST00000580168.5:c.3268T>C	ENSP00000464512.1:p.Leu1090=
NM_014877.3:c.3265T>C	NP_055692.2:p.Leu1089=
XM_005257888.3:c.3346T>C	XP_005257945.1:p.Leu1116=
XM_005257889.3:c.3268T>C	XP_005257946.1:p.Leu1090=
XM_005257890.3:c.3244T>C	XP_005257947.1:p.Leu1082=
XM_006722214.2:c.3349T>C	XP_006722277.1:p.Leu1117=
XM_006722215.2:c.2644T>C	XP_006722278.1:p.Leu882=
XM_006722216.2:c.2173T>C	XP_006722279.1:p.Leu725=
XM_011525544.1:c.3349T>C	XP_011523846.1:p.Leu1117=
XM_011525545.1:c.3349T>C	XP_011523847.1:p.Leu1117=
XR_934629.1:n.3340T>C
NM_001330447.1:c.3268T>C	NP_001317376.1:p.Leu1090=
XM_005257888.5:c.3346T>C	XP_005257945.1:p.Leu1116=
XM_006722214.4:c.3349T>C	XP_006722277.1:p.Leu1117=
XM_006722215.3:c.2644T>C	XP_006722278.1:p.Leu882=
XM_006722216.3:c.2173T>C	XP_006722279.1:p.Leu725=
XM_011525544.2:c.3349T>C	XP_011523846.1:p.Leu1117=
XM_017025477.2:c.2560T>C	XP_016880966.1:p.Leu854=
XM_017025478.1:c.2092T>C	XP_016880967.1:p.Leu698=
XR_001752712.2:n.3440T>C
XR_001752713.2:n.3292T>C
XR_001752714.2:n.3208T>C
NM_014877.4:c.3265T>C MANE Select	NP_055692.3:p.Leu1089=
NM_001330447.2:c.3268T>C	NP_001317376.2:p.Leu1090=