Canonical Allele Identifier: CA6621000

Gene: SUOX

Linked Data

• dbSNP Id: rs755604700
• ExAC: 12:56397726 G / A
• gnomAD v2: 12-56397726-G-A
• MyVariant Identifiers: chr12:g.56397726G>A (hg19) ; chr12:g.56003942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003942G>A , CM000674.2:g.56003942G>A	GRCh38
NC_000012.11:g.56397726G>A , CM000674.1:g.56397726G>A	GRCh37
NC_000012.10:g.54683993G>A	NCBI36
NG_008136.1:g.11684G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000266971.8:c.553G>A MANE Select	ENSP00000266971.3:p.Ala185Thr
ENST00000266971.7:c.553G>A	ENSP00000266971.3:p.Ala185Thr
ENST00000356124.8:c.553G>A	ENSP00000348440.4:p.Ala185Thr
ENST00000394109.7:c.553G>A	ENSP00000377668.3:p.Ala185Thr
ENST00000394115.6:c.553G>A	ENSP00000377674.2:p.Ala185Thr
ENST00000548274.5:c.553G>A	ENSP00000450245.1:p.Ala185Thr
ENST00000550065.1:c.553G>A	ENSP00000450264.1:p.Ala185Thr
ENST00000550340.5:n.438G>A
ENST00000551698.5:n.575G>A
ENST00000551841.6:c.268-212G>A	ENSP00000449443.1:n.268-212G>A
NM_000456.2:c.553G>A	NP_000447.2:p.Ala185Thr
NM_001032386.1:c.553G>A	NP_001027558.1:p.Ala185Thr
NM_001032387.1:c.553G>A	NP_001027559.1:p.Ala185Thr
XM_005269112.1:c.574G>A	XP_005269169.1:p.Ala192Thr
XM_017019905.2:c.574G>A	XP_016875394.1:p.Ala192Thr
XM_017019906.1:c.574G>A	XP_016875395.1:p.Ala192Thr
XM_017019907.2:c.553G>A	XP_016875396.1:p.Ala185Thr
XM_017019908.1:c.553G>A	XP_016875397.1:p.Ala185Thr
XM_024449167.1:c.574G>A	XP_024304935.1:p.Ala192Thr
NM_001032386.2:c.553G>A MANE Select	NP_001027558.1:p.Ala185Thr
NM_000456.3:c.553G>A	NP_000447.2:p.Ala185Thr
NM_001032387.2:c.553G>A	NP_001027559.1:p.Ala185Thr