Canonical Allele Identifier: CA354322478

Gene: ZXDC

Linked Data

• ClinVar Variation Id: 3199685
• ClinVar RCV Id: RCV004490518
• gnomAD v4: 3-126461638-T-C
• MyVariant Identifiers: chr3:g.126180481T>C (hg19) ; chr3:g.126461638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126461638T>C , CM000665.2:g.126461638T>C	GRCh38
NC_000003.11:g.126180481T>C , CM000665.1:g.126180481T>C	GRCh37
NC_000003.10:g.127663171T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389709.8:c.2024A>G MANE Select	ENSP00000374359.3:p.Gln675Arg
ENST00000336332.5:c.2024A>G	ENSP00000337694.5:p.Gln675Arg
ENST00000389709.7:c.2024A>G	ENSP00000374359.3:p.Gln675Arg
ENST00000515545.5:c.1146A>G
NM_001040653.3:c.2024A>G	NP_001035743.1:p.Gln675Arg
NM_025112.4:c.2024A>G	NP_079388.3:p.Gln675Arg
NR_104249.1:n.2078A>G
XM_005247757.2:c.2024A>G	XP_005247814.1:p.Gln675Arg
XM_006713741.1:c.2024A>G	XP_006713804.1:p.Gln675Arg
XM_011513119.1:c.1853A>G	XP_011511421.1:p.Gln618Arg
XR_924168.1:n.2087A>G
XR_924169.1:n.2088A>G
XR_924170.1:n.2087A>G
XM_005247757.3:c.2024A>G	XP_005247814.1:p.Gln675Arg
XM_006713741.2:c.2024A>G	XP_006713804.1:p.Gln675Arg
XM_011513119.2:c.1853A>G	XP_011511421.1:p.Gln618Arg
XR_924169.2:n.2089A>G
NM_025112.5:c.2024A>G MANE Select	NP_079388.3:p.Gln675Arg
NR_104249.2:n.2050A>G
NM_001040653.4:c.2024A>G	NP_001035743.1:p.Gln675Arg