Canonical Allele Identifier: CA6621192

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2175757
• ClinVar RCV Id: RCV002582034 ; RCV002602422
• dbSNP Id: rs747051877
• ExAC: 12:56398792 A / G
• gnomAD v2: 12-56398792-A-G
• gnomAD v3: 12-56005008-A-G
• gnomAD v4: 12-56005008-A-G
• MyVariant Identifiers: chr12:g.56398792A>G (hg19) ; chr12:g.56005008A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56005008A>G , CM000674.2:g.56005008A>G	GRCh38
NC_000012.11:g.56398792A>G , CM000674.1:g.56398792A>G	GRCh37
NC_000012.10:g.54685059A>G	NCBI36
NG_008136.1:g.12750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1619A>G MANE Select	ENSP00000266971.3:p.His540Arg
ENST00000266971.7:c.1619A>G	ENSP00000266971.3:p.His540Arg
ENST00000356124.8:c.1619A>G	ENSP00000348440.4:p.His540Arg
ENST00000394109.7:c.1619A>G	ENSP00000377668.3:p.His540Arg
ENST00000394115.6:c.1619A>G	ENSP00000377674.2:p.His540Arg
ENST00000548274.5:c.1619A>G	ENSP00000450245.1:p.His540Arg
ENST00000550065.1:c.1619A>G	ENSP00000450264.1:p.His540Arg
NM_000456.2:c.1619A>G	NP_000447.2:p.His540Arg
NM_001032386.1:c.1619A>G	NP_001027558.1:p.His540Arg
NM_001032387.1:c.1619A>G	NP_001027559.1:p.His540Arg
XM_005269112.1:c.1640A>G	XP_005269169.1:p.His547Arg
XM_017019905.2:c.1640A>G	XP_016875394.1:p.His547Arg
XM_017019906.1:c.1640A>G	XP_016875395.1:p.His547Arg
XM_017019907.2:c.1619A>G	XP_016875396.1:p.His540Arg
XM_017019908.1:c.1619A>G	XP_016875397.1:p.His540Arg
XM_024449167.1:c.1640A>G	XP_024304935.1:p.His547Arg
NM_001032386.2:c.1619A>G MANE Select	NP_001027558.1:p.His540Arg
NM_000456.3:c.1619A>G	NP_000447.2:p.His540Arg
NM_001032387.2:c.1619A>G	NP_001027559.1:p.His540Arg