Canonical Allele Identifier: CA400711153

Gene: HELZ

Linked Data

• MyVariant Identifiers: chr17:g.65124855A>G (hg19) ; chr17:g.67128739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128739A>G , CM000679.2:g.67128739A>G	GRCh38
NC_000017.10:g.65124855A>G , CM000679.1:g.65124855A>G	GRCh37
NC_000017.9:g.62555317A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3299T>C MANE Select	ENSP00000351524.5:p.Leu1100Ser
ENST00000358691.9:c.3299T>C	ENSP00000351524.5:p.Leu1100Ser
ENST00000579953.5:c.3302T>C	ENSP00000463727.1:p.Leu1101Ser
ENST00000580168.5:c.3302T>C	ENSP00000464512.1:p.Leu1101Ser
NM_014877.3:c.3299T>C	NP_055692.2:p.Leu1100Ser
XM_005257888.3:c.3380T>C	XP_005257945.1:p.Leu1127Ser
XM_005257889.3:c.3302T>C	XP_005257946.1:p.Leu1101Ser
XM_005257890.3:c.3278T>C	XP_005257947.1:p.Leu1093Ser
XM_006722214.2:c.3383T>C	XP_006722277.1:p.Leu1128Ser
XM_006722215.2:c.2678T>C	XP_006722278.1:p.Leu893Ser
XM_006722216.2:c.2207T>C	XP_006722279.1:p.Leu736Ser
XM_011525544.1:c.3383T>C	XP_011523846.1:p.Leu1128Ser
XM_011525545.1:c.3383T>C	XP_011523847.1:p.Leu1128Ser
XR_934629.1:n.3374T>C
NM_001330447.1:c.3302T>C	NP_001317376.1:p.Leu1101Ser
XM_005257888.5:c.3380T>C	XP_005257945.1:p.Leu1127Ser
XM_006722214.4:c.3383T>C	XP_006722277.1:p.Leu1128Ser
XM_006722215.3:c.2678T>C	XP_006722278.1:p.Leu893Ser
XM_006722216.3:c.2207T>C	XP_006722279.1:p.Leu736Ser
XM_011525544.2:c.3383T>C	XP_011523846.1:p.Leu1128Ser
XM_017025477.2:c.2594T>C	XP_016880966.1:p.Leu865Ser
XM_017025478.1:c.2126T>C	XP_016880967.1:p.Leu709Ser
XR_001752712.2:n.3474T>C
XR_001752713.2:n.3326T>C
XR_001752714.2:n.3242T>C
NM_014877.4:c.3299T>C MANE Select	NP_055692.3:p.Leu1100Ser
NM_001330447.2:c.3302T>C	NP_001317376.2:p.Leu1101Ser