Canonical Allele Identifier: CA8722780

Gene: HELZ

Linked Data

• dbSNP Id: rs775806409
• ExAC: 17:65124852 T / C
• gnomAD v2: 17-65124852-T-C
• MyVariant Identifiers: chr17:g.65124852T>C (hg19) ; chr17:g.67128736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128736T>C , CM000679.2:g.67128736T>C	GRCh38
NC_000017.10:g.65124852T>C , CM000679.1:g.65124852T>C	GRCh37
NC_000017.9:g.62555314T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3302A>G MANE Select	ENSP00000351524.5:p.Asn1101Ser
ENST00000358691.9:c.3302A>G	ENSP00000351524.5:p.Asn1101Ser
ENST00000579953.5:c.3305A>G	ENSP00000463727.1:p.Asn1102Ser
ENST00000580168.5:c.3305A>G	ENSP00000464512.1:p.Asn1102Ser
NM_014877.3:c.3302A>G	NP_055692.2:p.Asn1101Ser
XM_005257888.3:c.3383A>G	XP_005257945.1:p.Asn1128Ser
XM_005257889.3:c.3305A>G	XP_005257946.1:p.Asn1102Ser
XM_005257890.3:c.3281A>G	XP_005257947.1:p.Asn1094Ser
XM_006722214.2:c.3386A>G	XP_006722277.1:p.Asn1129Ser
XM_006722215.2:c.2681A>G	XP_006722278.1:p.Asn894Ser
XM_006722216.2:c.2210A>G	XP_006722279.1:p.Asn737Ser
XM_011525544.1:c.3386A>G	XP_011523846.1:p.Asn1129Ser
XM_011525545.1:c.3386A>G	XP_011523847.1:p.Asn1129Ser
XR_934629.1:n.3377A>G
NM_001330447.1:c.3305A>G	NP_001317376.1:p.Asn1102Ser
XM_005257888.5:c.3383A>G	XP_005257945.1:p.Asn1128Ser
XM_006722214.4:c.3386A>G	XP_006722277.1:p.Asn1129Ser
XM_006722215.3:c.2681A>G	XP_006722278.1:p.Asn894Ser
XM_006722216.3:c.2210A>G	XP_006722279.1:p.Asn737Ser
XM_011525544.2:c.3386A>G	XP_011523846.1:p.Asn1129Ser
XM_017025477.2:c.2597A>G	XP_016880966.1:p.Asn866Ser
XM_017025478.1:c.2129A>G	XP_016880967.1:p.Asn710Ser
XR_001752712.2:n.3477A>G
XR_001752713.2:n.3329A>G
XR_001752714.2:n.3245A>G
NM_014877.4:c.3302A>G MANE Select	NP_055692.3:p.Asn1101Ser
NM_001330447.2:c.3305A>G	NP_001317376.2:p.Asn1102Ser