Canonical Allele Identifier: CA237605230

Gene: SUOX

Linked Data

• dbSNP Id: rs931577041
• gnomAD v2: 12-56398100-CTG-C
• gnomAD v4: 12-56004316-CTG-C
• MyVariant Identifiers: chr12:g.56398101_56398102del (hg19) ; chr12:g.56004317_56004318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004319_56004320del , CM000674.2:g.56004319_56004320del	GRCh38
NC_000012.11:g.56398103_56398104del , CM000674.1:g.56398103_56398104del	GRCh37
NC_000012.10:g.54684370_54684371del	NCBI36
NG_008136.1:g.12061_12062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.930_931del MANE Select	ENSP00000266971.3:p.Cys310Ter
ENST00000266971.7:c.930_931del	ENSP00000266971.3:p.Cys310Ter
ENST00000356124.8:c.930_931del	ENSP00000348440.4:p.Cys310Ter
ENST00000394109.7:c.930_931del	ENSP00000377668.3:p.Cys310Ter
ENST00000394115.6:c.930_931del	ENSP00000377674.2:p.Cys310Ter
ENST00000548274.5:c.930_931del	ENSP00000450245.1:p.Cys310Ter
ENST00000550065.1:c.930_931del	ENSP00000450264.1:p.Cys310Ter
ENST00000551841.6:c.*118_*119del	ENSP00000449443.1:n.*118_*119del
NM_000456.2:c.930_931del	NP_000447.2:p.Cys310Ter
NM_001032386.1:c.930_931del	NP_001027558.1:p.Cys310Ter
NM_001032387.1:c.930_931del	NP_001027559.1:p.Cys310Ter
XM_005269112.1:c.951_952del	XP_005269169.1:p.Cys317Ter
XM_017019905.2:c.951_952del	XP_016875394.1:p.Cys317Ter
XM_017019906.1:c.951_952del	XP_016875395.1:p.Cys317Ter
XM_017019907.2:c.930_931del	XP_016875396.1:p.Cys310Ter
XM_017019908.1:c.930_931del	XP_016875397.1:p.Cys310Ter
XM_024449167.1:c.951_952del	XP_024304935.1:p.Cys317Ter
NM_001032386.2:c.930_931del MANE Select	NP_001027558.1:p.Cys310Ter
NM_000456.3:c.930_931del	NP_000447.2:p.Cys310Ter
NM_001032387.2:c.930_931del	NP_001027559.1:p.Cys310Ter