Canonical Allele Identifier: CA400711346

Gene: HELZ

Linked Data

• dbSNP Id: rs1471182892
• gnomAD v2: 17-65124901-T-G
• gnomAD v3: 17-67128785-T-G
• gnomAD v4: 17-67128785-T-G
• MyVariant Identifiers: chr17:g.65124901T>G (hg19) ; chr17:g.67128785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128785T>G , CM000679.2:g.67128785T>G	GRCh38
NC_000017.10:g.65124901T>G , CM000679.1:g.65124901T>G	GRCh37
NC_000017.9:g.62555363T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3253A>C MANE Select	ENSP00000351524.5:p.Ile1085Leu
ENST00000358691.9:c.3253A>C	ENSP00000351524.5:p.Ile1085Leu
ENST00000579953.5:c.3256A>C	ENSP00000463727.1:p.Ile1086Leu
ENST00000580168.5:c.3256A>C	ENSP00000464512.1:p.Ile1086Leu
NM_014877.3:c.3253A>C	NP_055692.2:p.Ile1085Leu
XM_005257888.3:c.3334A>C	XP_005257945.1:p.Ile1112Leu
XM_005257889.3:c.3256A>C	XP_005257946.1:p.Ile1086Leu
XM_005257890.3:c.3232A>C	XP_005257947.1:p.Ile1078Leu
XM_006722214.2:c.3337A>C	XP_006722277.1:p.Ile1113Leu
XM_006722215.2:c.2632A>C	XP_006722278.1:p.Ile878Leu
XM_006722216.2:c.2161A>C	XP_006722279.1:p.Ile721Leu
XM_011525544.1:c.3337A>C	XP_011523846.1:p.Ile1113Leu
XM_011525545.1:c.3337A>C	XP_011523847.1:p.Ile1113Leu
XR_934629.1:n.3328A>C
NM_001330447.1:c.3256A>C	NP_001317376.1:p.Ile1086Leu
XM_005257888.5:c.3334A>C	XP_005257945.1:p.Ile1112Leu
XM_006722214.4:c.3337A>C	XP_006722277.1:p.Ile1113Leu
XM_006722215.3:c.2632A>C	XP_006722278.1:p.Ile878Leu
XM_006722216.3:c.2161A>C	XP_006722279.1:p.Ile721Leu
XM_011525544.2:c.3337A>C	XP_011523846.1:p.Ile1113Leu
XM_017025477.2:c.2548A>C	XP_016880966.1:p.Ile850Leu
XM_017025478.1:c.2080A>C	XP_016880967.1:p.Ile694Leu
XR_001752712.2:n.3428A>C
XR_001752713.2:n.3280A>C
XR_001752714.2:n.3196A>C
NM_014877.4:c.3253A>C MANE Select	NP_055692.3:p.Ile1085Leu
NM_001330447.2:c.3256A>C	NP_001317376.2:p.Ile1086Leu