Canonical Allele Identifier: CA6620948
Gene: SUOX HGNC NCBI

Linked Data

ClinVar Variation Id: 309834
ClinVar RCV Id: RCV000392392
dbSNP Id: rs763253683

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56003668C>T , CM000674.2:g.56003668C>T GRCh38
NC_000012.11:g.56397452C>T , CM000674.1:g.56397452C>T GRCh37
NC_000012.10:g.54683719C>T NCBI36
NG_008136.1:g.11410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266971.8:c.279C>T MANE Select ENSP00000266971.3:p.His93=
ENST00000266971.7:c.279C>T ENSP00000266971.3:p.His93=
ENST00000356124.8:c.279C>T ENSP00000348440.4:p.His93=
ENST00000394109.7:c.279C>T ENSP00000377668.3:p.His93=
ENST00000394115.6:c.279C>T ENSP00000377674.2:p.His93=
ENST00000546712.1:n.770C>T
ENST00000546833.5:c.279C>T ENSP00000449872.1:p.His93=
ENST00000548274.5:c.279C>T ENSP00000450245.1:p.His93=
ENST00000550065.1:c.279C>T ENSP00000450264.1:p.His93=
ENST00000550340.5:n.164C>T
ENST00000550478.5:n.358C>T
ENST00000551698.5:n.301C>T
ENST00000551841.6:c.267+12C>T ENSP00000449443.1:n.267+12C>T
ENST00000552258.5:c.279C>T ENSP00000450049.1:p.His93=
ENST00000552363.5:n.132C>T
NM_000456.2:c.279C>T NP_000447.2:p.His93=
NM_001032386.1:c.279C>T NP_001027558.1:p.His93=
NM_001032387.1:c.279C>T NP_001027559.1:p.His93=
XM_005269112.1:c.300C>T XP_005269169.1:p.His100=
XM_017019905.2:c.300C>T XP_016875394.1:p.His100=
XM_017019906.1:c.300C>T XP_016875395.1:p.His100=
XM_017019907.2:c.279C>T XP_016875396.1:p.His93=
XM_017019908.1:c.279C>T XP_016875397.1:p.His93=
XM_024449167.1:c.300C>T XP_024304935.1:p.His100=
NM_001032386.2:c.279C>T MANE Select NP_001027558.1:p.His93=
NM_000456.3:c.279C>T NP_000447.2:p.His93=
NM_001032387.2:c.279C>T NP_001027559.1:p.His93=