Canonical Allele Identifier: CA400711416

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124932G>C (hg19) ; chr17:g.67128816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128816G>C , CM000679.2:g.67128816G>C	GRCh38
NC_000017.10:g.65124932G>C , CM000679.1:g.65124932G>C	GRCh37
NC_000017.9:g.62555394G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3222C>G MANE Select	ENSP00000351524.5:p.Asn1074Lys
ENST00000358691.9:c.3222C>G	ENSP00000351524.5:p.Asn1074Lys
ENST00000579953.5:c.3225C>G	ENSP00000463727.1:p.Asn1075Lys
ENST00000580168.5:c.3225C>G	ENSP00000464512.1:p.Asn1075Lys
NM_014877.3:c.3222C>G	NP_055692.2:p.Asn1074Lys
XM_005257888.3:c.3303C>G	XP_005257945.1:p.Asn1101Lys
XM_005257889.3:c.3225C>G	XP_005257946.1:p.Asn1075Lys
XM_005257890.3:c.3201C>G	XP_005257947.1:p.Asn1067Lys
XM_006722214.2:c.3306C>G	XP_006722277.1:p.Asn1102Lys
XM_006722215.2:c.2601C>G	XP_006722278.1:p.Asn867Lys
XM_006722216.2:c.2130C>G	XP_006722279.1:p.Asn710Lys
XM_011525544.1:c.3306C>G	XP_011523846.1:p.Asn1102Lys
XM_011525545.1:c.3306C>G	XP_011523847.1:p.Asn1102Lys
XR_934629.1:n.3297C>G
NM_001330447.1:c.3225C>G	NP_001317376.1:p.Asn1075Lys
XM_005257888.5:c.3303C>G	XP_005257945.1:p.Asn1101Lys
XM_006722214.4:c.3306C>G	XP_006722277.1:p.Asn1102Lys
XM_006722215.3:c.2601C>G	XP_006722278.1:p.Asn867Lys
XM_006722216.3:c.2130C>G	XP_006722279.1:p.Asn710Lys
XM_011525544.2:c.3306C>G	XP_011523846.1:p.Asn1102Lys
XM_017025477.2:c.2517C>G	XP_016880966.1:p.Asn839Lys
XM_017025478.1:c.2049C>G	XP_016880967.1:p.Asn683Lys
XR_001752712.2:n.3397C>G
XR_001752713.2:n.3249C>G
XR_001752714.2:n.3165C>G
NM_014877.4:c.3222C>G MANE Select	NP_055692.3:p.Asn1074Lys
NM_001330447.2:c.3225C>G	NP_001317376.2:p.Asn1075Lys