Canonical Allele Identifier: CA385289847

Gene: SUOX

Linked Data

• dbSNP Id: rs1890655414
• gnomAD v3: 12-56004343-T-G
• gnomAD v4: 12-56004343-T-G
• MyVariant Identifiers: chr12:g.56398127T>G (hg19) ; chr12:g.56004343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004343T>G , CM000674.2:g.56004343T>G	GRCh38
NC_000012.11:g.56398127T>G , CM000674.1:g.56398127T>G	GRCh37
NC_000012.10:g.54684394T>G	NCBI36
NG_008136.1:g.12085T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.954T>G MANE Select	ENSP00000266971.3:p.Phe318Leu
ENST00000266971.7:c.954T>G	ENSP00000266971.3:p.Phe318Leu
ENST00000356124.8:c.954T>G	ENSP00000348440.4:p.Phe318Leu
ENST00000394109.7:c.954T>G	ENSP00000377668.3:p.Phe318Leu
ENST00000394115.6:c.954T>G	ENSP00000377674.2:p.Phe318Leu
ENST00000548274.5:c.954T>G	ENSP00000450245.1:p.Phe318Leu
ENST00000550065.1:c.954T>G	ENSP00000450264.1:p.Phe318Leu
ENST00000551841.6:c.*142T>G	ENSP00000449443.1:n.*142T>G
NM_000456.2:c.954T>G	NP_000447.2:p.Phe318Leu
NM_001032386.1:c.954T>G	NP_001027558.1:p.Phe318Leu
NM_001032387.1:c.954T>G	NP_001027559.1:p.Phe318Leu
XM_005269112.1:c.975T>G	XP_005269169.1:p.Phe325Leu
XM_017019905.2:c.975T>G	XP_016875394.1:p.Phe325Leu
XM_017019906.1:c.975T>G	XP_016875395.1:p.Phe325Leu
XM_017019907.2:c.954T>G	XP_016875396.1:p.Phe318Leu
XM_017019908.1:c.954T>G	XP_016875397.1:p.Phe318Leu
XM_024449167.1:c.975T>G	XP_024304935.1:p.Phe325Leu
NM_001032386.2:c.954T>G MANE Select	NP_001027558.1:p.Phe318Leu
NM_000456.3:c.954T>G	NP_000447.2:p.Phe318Leu
NM_001032387.2:c.954T>G	NP_001027559.1:p.Phe318Leu