Canonical Allele Identifier: CA400711085

Gene: HELZ

Linked Data

• gnomAD v4: 17-67128725-G-C
• MyVariant Identifiers: chr17:g.65124841G>C (hg19) ; chr17:g.67128725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128725G>C , CM000679.2:g.67128725G>C	GRCh38
NC_000017.10:g.65124841G>C , CM000679.1:g.65124841G>C	GRCh37
NC_000017.9:g.62555303G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358691.10:c.3313C>G MANE Select	ENSP00000351524.5:p.Pro1105Ala
ENST00000358691.9:c.3313C>G	ENSP00000351524.5:p.Pro1105Ala
ENST00000579953.5:c.3316C>G	ENSP00000463727.1:p.Pro1106Ala
ENST00000580168.5:c.3316C>G	ENSP00000464512.1:p.Pro1106Ala
NM_014877.3:c.3313C>G	NP_055692.2:p.Pro1105Ala
XM_005257888.3:c.3394C>G	XP_005257945.1:p.Pro1132Ala
XM_005257889.3:c.3316C>G	XP_005257946.1:p.Pro1106Ala
XM_005257890.3:c.3292C>G	XP_005257947.1:p.Pro1098Ala
XM_006722214.2:c.3397C>G	XP_006722277.1:p.Pro1133Ala
XM_006722215.2:c.2692C>G	XP_006722278.1:p.Pro898Ala
XM_006722216.2:c.2221C>G	XP_006722279.1:p.Pro741Ala
XM_011525544.1:c.3397C>G	XP_011523846.1:p.Pro1133Ala
XM_011525545.1:c.3397C>G	XP_011523847.1:p.Pro1133Ala
XR_934629.1:n.3388C>G
NM_001330447.1:c.3316C>G	NP_001317376.1:p.Pro1106Ala
XM_005257888.5:c.3394C>G	XP_005257945.1:p.Pro1132Ala
XM_006722214.4:c.3397C>G	XP_006722277.1:p.Pro1133Ala
XM_006722215.3:c.2692C>G	XP_006722278.1:p.Pro898Ala
XM_006722216.3:c.2221C>G	XP_006722279.1:p.Pro741Ala
XM_011525544.2:c.3397C>G	XP_011523846.1:p.Pro1133Ala
XM_017025477.2:c.2608C>G	XP_016880966.1:p.Pro870Ala
XM_017025478.1:c.2140C>G	XP_016880967.1:p.Pro714Ala
XR_001752712.2:n.3488C>G
XR_001752713.2:n.3340C>G
XR_001752714.2:n.3256C>G
NM_014877.4:c.3313C>G MANE Select	NP_055692.3:p.Pro1105Ala
NM_001330447.2:c.3316C>G	NP_001317376.2:p.Pro1106Ala