Canonical Allele Identifier: CA8722781

Gene: HELZ

Linked Data

• dbSNP Id: rs573672221
• ExAC: 17:65124860 A / G
• gnomAD v2: 17-65124860-A-G
• gnomAD v3: 17-67128744-A-G
• gnomAD v4: 17-67128744-A-G
• MyVariant Identifiers: chr17:g.65124860A>G (hg19) ; chr17:g.67128744A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128744A>G , CM000679.2:g.67128744A>G	GRCh38
NC_000017.10:g.65124860A>G , CM000679.1:g.65124860A>G	GRCh37
NC_000017.9:g.62555322A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3294T>C MANE Select	ENSP00000351524.5:p.Tyr1098=
ENST00000358691.9:c.3294T>C	ENSP00000351524.5:p.Tyr1098=
ENST00000579953.5:c.3297T>C	ENSP00000463727.1:p.Tyr1099=
ENST00000580168.5:c.3297T>C	ENSP00000464512.1:p.Tyr1099=
NM_014877.3:c.3294T>C	NP_055692.2:p.Tyr1098=
XM_005257888.3:c.3375T>C	XP_005257945.1:p.Tyr1125=
XM_005257889.3:c.3297T>C	XP_005257946.1:p.Tyr1099=
XM_005257890.3:c.3273T>C	XP_005257947.1:p.Tyr1091=
XM_006722214.2:c.3378T>C	XP_006722277.1:p.Tyr1126=
XM_006722215.2:c.2673T>C	XP_006722278.1:p.Tyr891=
XM_006722216.2:c.2202T>C	XP_006722279.1:p.Tyr734=
XM_011525544.1:c.3378T>C	XP_011523846.1:p.Tyr1126=
XM_011525545.1:c.3378T>C	XP_011523847.1:p.Tyr1126=
XR_934629.1:n.3369T>C
NM_001330447.1:c.3297T>C	NP_001317376.1:p.Tyr1099=
XM_005257888.5:c.3375T>C	XP_005257945.1:p.Tyr1125=
XM_006722214.4:c.3378T>C	XP_006722277.1:p.Tyr1126=
XM_006722215.3:c.2673T>C	XP_006722278.1:p.Tyr891=
XM_006722216.3:c.2202T>C	XP_006722279.1:p.Tyr734=
XM_011525544.2:c.3378T>C	XP_011523846.1:p.Tyr1126=
XM_017025477.2:c.2589T>C	XP_016880966.1:p.Tyr863=
XM_017025478.1:c.2121T>C	XP_016880967.1:p.Tyr707=
XR_001752712.2:n.3469T>C
XR_001752713.2:n.3321T>C
XR_001752714.2:n.3237T>C
NM_014877.4:c.3294T>C MANE Select	NP_055692.3:p.Tyr1098=
NM_001330447.2:c.3297T>C	NP_001317376.2:p.Tyr1099=