Canonical Allele Identifier: CA385291323

Gene: SUOX

Linked Data

• gnomAD v4: 12-56004529-G-T
• MyVariant Identifiers: chr12:g.56398313G>T (hg19) ; chr12:g.56004529G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004529G>T , CM000674.2:g.56004529G>T	GRCh38
NC_000012.11:g.56398313G>T , CM000674.1:g.56398313G>T	GRCh37
NC_000012.10:g.54684580G>T	NCBI36
NG_008136.1:g.12271G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.1140G>T MANE Select	ENSP00000266971.3:p.Trp380Cys
ENST00000266971.7:c.1140G>T	ENSP00000266971.3:p.Trp380Cys
ENST00000356124.8:c.1140G>T	ENSP00000348440.4:p.Trp380Cys
ENST00000394109.7:c.1140G>T	ENSP00000377668.3:p.Trp380Cys
ENST00000394115.6:c.1140G>T	ENSP00000377674.2:p.Trp380Cys
ENST00000548274.5:c.1140G>T	ENSP00000450245.1:p.Trp380Cys
ENST00000550065.1:c.1140G>T	ENSP00000450264.1:p.Trp380Cys
ENST00000551841.6:c.*328G>T	ENSP00000449443.1:n.*328G>T
NM_000456.2:c.1140G>T	NP_000447.2:p.Trp380Cys
NM_001032386.1:c.1140G>T	NP_001027558.1:p.Trp380Cys
NM_001032387.1:c.1140G>T	NP_001027559.1:p.Trp380Cys
XM_005269112.1:c.1161G>T	XP_005269169.1:p.Trp387Cys
XM_017019905.2:c.1161G>T	XP_016875394.1:p.Trp387Cys
XM_017019906.1:c.1161G>T	XP_016875395.1:p.Trp387Cys
XM_017019907.2:c.1140G>T	XP_016875396.1:p.Trp380Cys
XM_017019908.1:c.1140G>T	XP_016875397.1:p.Trp380Cys
XM_024449167.1:c.1161G>T	XP_024304935.1:p.Trp387Cys
NM_001032386.2:c.1140G>T MANE Select	NP_001027558.1:p.Trp380Cys
NM_000456.3:c.1140G>T	NP_000447.2:p.Trp380Cys
NM_001032387.2:c.1140G>T	NP_001027559.1:p.Trp380Cys