Canonical Allele Identifier: CA237605236

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2797381
• ClinVar RCV Id: RCV003639533
• dbSNP Id: rs1037556059
• MyVariant Identifiers: chr12:g.56398121C>G (hg19) ; chr12:g.56004337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004337C>G , CM000674.2:g.56004337C>G	GRCh38
NC_000012.11:g.56398121C>G , CM000674.1:g.56398121C>G	GRCh37
NC_000012.10:g.54684388C>G	NCBI36
NG_008136.1:g.12079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.948C>G MANE Select	ENSP00000266971.3:p.Val316=
ENST00000266971.7:c.948C>G	ENSP00000266971.3:p.Val316=
ENST00000356124.8:c.948C>G	ENSP00000348440.4:p.Val316=
ENST00000394109.7:c.948C>G	ENSP00000377668.3:p.Val316=
ENST00000394115.6:c.948C>G	ENSP00000377674.2:p.Val316=
ENST00000548274.5:c.948C>G	ENSP00000450245.1:p.Val316=
ENST00000550065.1:c.948C>G	ENSP00000450264.1:p.Val316=
ENST00000551841.6:c.*136C>G	ENSP00000449443.1:n.*136C>G
NM_000456.2:c.948C>G	NP_000447.2:p.Val316=
NM_001032386.1:c.948C>G	NP_001027558.1:p.Val316=
NM_001032387.1:c.948C>G	NP_001027559.1:p.Val316=
XM_005269112.1:c.969C>G	XP_005269169.1:p.Val323=
XM_017019905.2:c.969C>G	XP_016875394.1:p.Val323=
XM_017019906.1:c.969C>G	XP_016875395.1:p.Val323=
XM_017019907.2:c.948C>G	XP_016875396.1:p.Val316=
XM_017019908.1:c.948C>G	XP_016875397.1:p.Val316=
XM_024449167.1:c.969C>G	XP_024304935.1:p.Val323=
NM_001032386.2:c.948C>G MANE Select	NP_001027558.1:p.Val316=
NM_000456.3:c.948C>G	NP_000447.2:p.Val316=
NM_001032387.2:c.948C>G	NP_001027559.1:p.Val316=