Canonical Allele Identifier: CA480179825

Gene: SUOX

Linked Data

• ClinVar Variation Id: 2826522
• ClinVar RCV Id: RCV003639910
• dbSNP Id: rs1275614590
• gnomAD v2: 12-56397552-C-T
• gnomAD v3: 12-56003768-C-T
• gnomAD v4: 12-56003768-C-T
• MyVariant Identifiers: chr12:g.56397552C>T (hg19) ; chr12:g.56003768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003768C>T , CM000674.2:g.56003768C>T	GRCh38
NC_000012.11:g.56397552C>T , CM000674.1:g.56397552C>T	GRCh37
NC_000012.10:g.54683819C>T	NCBI36
NG_008136.1:g.11510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.379C>T MANE Select	ENSP00000266971.3:p.Leu127=
ENST00000266971.7:c.379C>T	ENSP00000266971.3:p.Leu127=
ENST00000356124.8:c.379C>T	ENSP00000348440.4:p.Leu127=
ENST00000394109.7:c.379C>T	ENSP00000377668.3:p.Leu127=
ENST00000394115.6:c.379C>T	ENSP00000377674.2:p.Leu127=
ENST00000546833.5:c.379C>T	ENSP00000449872.1:p.Leu127=
ENST00000548274.5:c.379C>T	ENSP00000450245.1:p.Leu127=
ENST00000550065.1:c.379C>T	ENSP00000450264.1:p.Leu127=
ENST00000550340.5:n.264C>T
ENST00000550478.5:n.458C>T
ENST00000551698.5:n.401C>T
ENST00000551841.6:c.267+112C>T	ENSP00000449443.1:n.267+112C>T
ENST00000552363.5:n.232C>T
NM_000456.2:c.379C>T	NP_000447.2:p.Leu127=
NM_001032386.1:c.379C>T	NP_001027558.1:p.Leu127=
NM_001032387.1:c.379C>T	NP_001027559.1:p.Leu127=
XM_005269112.1:c.400C>T	XP_005269169.1:p.Leu134=
XM_017019905.2:c.400C>T	XP_016875394.1:p.Leu134=
XM_017019906.1:c.400C>T	XP_016875395.1:p.Leu134=
XM_017019907.2:c.379C>T	XP_016875396.1:p.Leu127=
XM_017019908.1:c.379C>T	XP_016875397.1:p.Leu127=
XM_024449167.1:c.400C>T	XP_024304935.1:p.Leu134=
NM_001032386.2:c.379C>T MANE Select	NP_001027558.1:p.Leu127=
NM_000456.3:c.379C>T	NP_000447.2:p.Leu127=
NM_001032387.2:c.379C>T	NP_001027559.1:p.Leu127=