Canonical Allele Identifier: CA6621181

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2776739
• ClinVar RCV Id: RCV003638982
• dbSNP Id: rs572901773
• ExAC: 12:56398736 C / A
• gnomAD v2: 12-56398736-C-A
• gnomAD v3: 12-56004952-C-A
• gnomAD v4: 12-56004952-C-A
• MyVariant Identifiers: chr12:g.56398736C>A (hg19) ; chr12:g.56004952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004952C>A , CM000674.2:g.56004952C>A	GRCh38
NC_000012.11:g.56398736C>A , CM000674.1:g.56398736C>A	GRCh37
NC_000012.10:g.54685003C>A	NCBI36
NG_008136.1:g.12694C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1563C>A MANE Select	ENSP00000266971.3:p.Thr521=
ENST00000266971.7:c.1563C>A	ENSP00000266971.3:p.Thr521=
ENST00000356124.8:c.1563C>A	ENSP00000348440.4:p.Thr521=
ENST00000394109.7:c.1563C>A	ENSP00000377668.3:p.Thr521=
ENST00000394115.6:c.1563C>A	ENSP00000377674.2:p.Thr521=
ENST00000548274.5:c.1563C>A	ENSP00000450245.1:p.Thr521=
ENST00000550065.1:c.1563C>A	ENSP00000450264.1:p.Thr521=
NM_000456.2:c.1563C>A	NP_000447.2:p.Thr521=
NM_001032386.1:c.1563C>A	NP_001027558.1:p.Thr521=
NM_001032387.1:c.1563C>A	NP_001027559.1:p.Thr521=
XM_005269112.1:c.1584C>A	XP_005269169.1:p.Thr528=
XM_017019905.2:c.1584C>A	XP_016875394.1:p.Thr528=
XM_017019906.1:c.1584C>A	XP_016875395.1:p.Thr528=
XM_017019907.2:c.1563C>A	XP_016875396.1:p.Thr521=
XM_017019908.1:c.1563C>A	XP_016875397.1:p.Thr521=
XM_024449167.1:c.1584C>A	XP_024304935.1:p.Thr528=
NM_001032386.2:c.1563C>A MANE Select	NP_001027558.1:p.Thr521=
NM_000456.3:c.1563C>A	NP_000447.2:p.Thr521=
NM_001032387.2:c.1563C>A	NP_001027559.1:p.Thr521=