Canonical Allele Identifier: CA6621138

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2097207
• ClinVar RCV Id: RCV003016575
• dbSNP Id: rs761809330
• ExAC: 12:56398441 T / C
• gnomAD v2: 12-56398441-T-C
• gnomAD v4: 12-56004657-T-C
• COSMIC: COSM5012574
• MyVariant Identifiers: chr12:g.56398441T>C (hg19) ; chr12:g.56004657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004657T>C , CM000674.2:g.56004657T>C	GRCh38
NC_000012.11:g.56398441T>C , CM000674.1:g.56398441T>C	GRCh37
NC_000012.10:g.54684708T>C	NCBI36
NG_008136.1:g.12399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1268T>C MANE Select	ENSP00000266971.3:p.Leu423Pro
ENST00000266971.7:c.1268T>C	ENSP00000266971.3:p.Leu423Pro
ENST00000356124.8:c.1268T>C	ENSP00000348440.4:p.Leu423Pro
ENST00000394109.7:c.1268T>C	ENSP00000377668.3:p.Leu423Pro
ENST00000394115.6:c.1268T>C	ENSP00000377674.2:p.Leu423Pro
ENST00000548274.5:c.1268T>C	ENSP00000450245.1:p.Leu423Pro
ENST00000550065.1:c.1268T>C	ENSP00000450264.1:p.Leu423Pro
ENST00000551841.6:c.*456T>C	ENSP00000449443.1:n.*456T>C
NM_000456.2:c.1268T>C	NP_000447.2:p.Leu423Pro
NM_001032386.1:c.1268T>C	NP_001027558.1:p.Leu423Pro
NM_001032387.1:c.1268T>C	NP_001027559.1:p.Leu423Pro
XM_005269112.1:c.1289T>C	XP_005269169.1:p.Leu430Pro
XM_017019905.2:c.1289T>C	XP_016875394.1:p.Leu430Pro
XM_017019906.1:c.1289T>C	XP_016875395.1:p.Leu430Pro
XM_017019907.2:c.1268T>C	XP_016875396.1:p.Leu423Pro
XM_017019908.1:c.1268T>C	XP_016875397.1:p.Leu423Pro
XM_024449167.1:c.1289T>C	XP_024304935.1:p.Leu430Pro
NM_001032386.2:c.1268T>C MANE Select	NP_001027558.1:p.Leu423Pro
NM_000456.3:c.1268T>C	NP_000447.2:p.Leu423Pro
NM_001032387.2:c.1268T>C	NP_001027559.1:p.Leu423Pro