Canonical Allele Identifier: CA293205860

Gene: HELZ

Linked Data

• dbSNP Id: rs925515698
• gnomAD v2: 17-65124921-T-C
• gnomAD v3: 17-67128805-T-C
• gnomAD v4: 17-67128805-T-C
• MyVariant Identifiers: chr17:g.65124921T>C (hg19) ; chr17:g.67128805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128805T>C , CM000679.2:g.67128805T>C	GRCh38
NC_000017.10:g.65124921T>C , CM000679.1:g.65124921T>C	GRCh37
NC_000017.9:g.62555383T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3233A>G MANE Select	ENSP00000351524.5:p.His1078Arg
ENST00000358691.9:c.3233A>G	ENSP00000351524.5:p.His1078Arg
ENST00000579953.5:c.3236A>G	ENSP00000463727.1:p.His1079Arg
ENST00000580168.5:c.3236A>G	ENSP00000464512.1:p.His1079Arg
NM_014877.3:c.3233A>G	NP_055692.2:p.His1078Arg
XM_005257888.3:c.3314A>G	XP_005257945.1:p.His1105Arg
XM_005257889.3:c.3236A>G	XP_005257946.1:p.His1079Arg
XM_005257890.3:c.3212A>G	XP_005257947.1:p.His1071Arg
XM_006722214.2:c.3317A>G	XP_006722277.1:p.His1106Arg
XM_006722215.2:c.2612A>G	XP_006722278.1:p.His871Arg
XM_006722216.2:c.2141A>G	XP_006722279.1:p.His714Arg
XM_011525544.1:c.3317A>G	XP_011523846.1:p.His1106Arg
XM_011525545.1:c.3317A>G	XP_011523847.1:p.His1106Arg
XR_934629.1:n.3308A>G
NM_001330447.1:c.3236A>G	NP_001317376.1:p.His1079Arg
XM_005257888.5:c.3314A>G	XP_005257945.1:p.His1105Arg
XM_006722214.4:c.3317A>G	XP_006722277.1:p.His1106Arg
XM_006722215.3:c.2612A>G	XP_006722278.1:p.His871Arg
XM_006722216.3:c.2141A>G	XP_006722279.1:p.His714Arg
XM_011525544.2:c.3317A>G	XP_011523846.1:p.His1106Arg
XM_017025477.2:c.2528A>G	XP_016880966.1:p.His843Arg
XM_017025478.1:c.2060A>G	XP_016880967.1:p.His687Arg
XR_001752712.2:n.3408A>G
XR_001752713.2:n.3260A>G
XR_001752714.2:n.3176A>G
NM_014877.4:c.3233A>G MANE Select	NP_055692.3:p.His1078Arg
NM_001330447.2:c.3236A>G	NP_001317376.2:p.His1079Arg