Canonical Allele Identifier: CA480366315

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2767738
• ClinVar RCV Id: RCV003522719
• dbSNP Id: rs1890676035
• gnomAD v3: 12-56004679-A-C
• gnomAD v4: 12-56004679-A-C
• MyVariant Identifiers: chr12:g.56398463A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004679A>C , CM000674.2:g.56004679A>C	GRCh38
NC_000012.11:g.56398463A>C , CM000674.1:g.56398463A>C	GRCh37
NC_000012.10:g.54684730A>C	NCBI36
NG_008136.1:g.12421A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000266971.8:c.1290A>C MANE Select	ENSP00000266971.3:p.Thr430=
ENST00000266971.7:c.1290A>C	ENSP00000266971.3:p.Thr430=
ENST00000356124.8:c.1290A>C	ENSP00000348440.4:p.Thr430=
ENST00000394109.7:c.1290A>C	ENSP00000377668.3:p.Thr430=
ENST00000394115.6:c.1290A>C	ENSP00000377674.2:p.Thr430=
ENST00000548274.5:c.1290A>C	ENSP00000450245.1:p.Thr430=
ENST00000550065.1:c.1290A>C	ENSP00000450264.1:p.Thr430=
NM_000456.2:c.1290A>C	NP_000447.2:p.Thr430=
NM_001032386.1:c.1290A>C	NP_001027558.1:p.Thr430=
NM_001032387.1:c.1290A>C	NP_001027559.1:p.Thr430=
XM_005269112.1:c.1311A>C	XP_005269169.1:p.Thr437=
XM_017019905.2:c.1311A>C	XP_016875394.1:p.Thr437=
XM_017019906.1:c.1311A>C	XP_016875395.1:p.Thr437=
XM_017019907.2:c.1290A>C	XP_016875396.1:p.Thr430=
XM_017019908.1:c.1290A>C	XP_016875397.1:p.Thr430=
XM_024449167.1:c.1311A>C	XP_024304935.1:p.Thr437=
NM_001032386.2:c.1290A>C MANE Select	NP_001027558.1:p.Thr430=
NM_000456.3:c.1290A>C	NP_000447.2:p.Thr430=
NM_001032387.2:c.1290A>C	NP_001027559.1:p.Thr430=