Canonical Allele Identifier: CA400711285

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124879A>C (hg19) ; chr17:g.67128763A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128763A>C , CM000679.2:g.67128763A>C	GRCh38
NC_000017.10:g.65124879A>C , CM000679.1:g.65124879A>C	GRCh37
NC_000017.9:g.62555341A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3275T>G MANE Select	ENSP00000351524.5:p.Leu1092Ter
ENST00000358691.9:c.3275T>G	ENSP00000351524.5:p.Leu1092Ter
ENST00000579953.5:c.3278T>G	ENSP00000463727.1:p.Leu1093Ter
ENST00000580168.5:c.3278T>G	ENSP00000464512.1:p.Leu1093Ter
NM_014877.3:c.3275T>G	NP_055692.2:p.Leu1092Ter
XM_005257888.3:c.3356T>G	XP_005257945.1:p.Leu1119Ter
XM_005257889.3:c.3278T>G	XP_005257946.1:p.Leu1093Ter
XM_005257890.3:c.3254T>G	XP_005257947.1:p.Leu1085Ter
XM_006722214.2:c.3359T>G	XP_006722277.1:p.Leu1120Ter
XM_006722215.2:c.2654T>G	XP_006722278.1:p.Leu885Ter
XM_006722216.2:c.2183T>G	XP_006722279.1:p.Leu728Ter
XM_011525544.1:c.3359T>G	XP_011523846.1:p.Leu1120Ter
XM_011525545.1:c.3359T>G	XP_011523847.1:p.Leu1120Ter
XR_934629.1:n.3350T>G
NM_001330447.1:c.3278T>G	NP_001317376.1:p.Leu1093Ter
XM_005257888.5:c.3356T>G	XP_005257945.1:p.Leu1119Ter
XM_006722214.4:c.3359T>G	XP_006722277.1:p.Leu1120Ter
XM_006722215.3:c.2654T>G	XP_006722278.1:p.Leu885Ter
XM_006722216.3:c.2183T>G	XP_006722279.1:p.Leu728Ter
XM_011525544.2:c.3359T>G	XP_011523846.1:p.Leu1120Ter
XM_017025477.2:c.2570T>G	XP_016880966.1:p.Leu857Ter
XM_017025478.1:c.2102T>G	XP_016880967.1:p.Leu701Ter
XR_001752712.2:n.3450T>G
XR_001752713.2:n.3302T>G
XR_001752714.2:n.3218T>G
NM_014877.4:c.3275T>G MANE Select	NP_055692.3:p.Leu1092Ter
NM_001330447.2:c.3278T>G	NP_001317376.2:p.Leu1093Ter