Canonical Allele Identifier: CA385279967
Gene: SUOX HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.56396504G>C (hg19) chr12:g.56002720G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56002720G>C , CM000674.2:g.56002720G>C GRCh38
NC_000012.11:g.56396504G>C , CM000674.1:g.56396504G>C GRCh37
NC_000012.10:g.54682771G>C NCBI36
NG_008136.1:g.10462G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266971.8:c.228G>C MANE Select ENSP00000266971.3:p.Arg76Ser
ENST00000266971.7:c.228G>C ENSP00000266971.3:p.Arg76Ser
ENST00000356124.8:c.228G>C ENSP00000348440.4:p.Arg76Ser
ENST00000394109.7:c.228G>C ENSP00000377668.3:p.Arg76Ser
ENST00000394115.6:c.228G>C ENSP00000377674.2:p.Arg76Ser
ENST00000546712.1:n.719G>C
ENST00000546833.5:c.228G>C ENSP00000449872.1:p.Arg76Ser
ENST00000548274.5:c.228G>C ENSP00000450245.1:p.Arg76Ser
ENST00000550065.1:c.228G>C ENSP00000450264.1:p.Arg76Ser
ENST00000550340.5:n.113+449G>C
ENST00000550478.5:n.307G>C
ENST00000551698.5:n.250+449G>C
ENST00000551841.6:c.228G>C ENSP00000449443.1:p.Arg76Ser
ENST00000552258.5:c.228G>C ENSP00000450049.1:p.Arg76Ser
ENST00000552363.5:n.82-898G>C
ENST00000552813.5:n.369G>C
NM_000456.2:c.228G>C NP_000447.2:p.Arg76Ser
NM_001032386.1:c.228G>C NP_001027558.1:p.Arg76Ser
NM_001032387.1:c.228G>C NP_001027559.1:p.Arg76Ser
XM_005269112.1:c.249G>C XP_005269169.1:p.Arg83Ser
XM_017019905.2:c.249G>C XP_016875394.1:p.Arg83Ser
XM_017019906.1:c.249G>C XP_016875395.1:p.Arg83Ser
XM_017019907.2:c.228G>C XP_016875396.1:p.Arg76Ser
XM_017019908.1:c.228G>C XP_016875397.1:p.Arg76Ser
XM_024449167.1:c.249G>C XP_024304935.1:p.Arg83Ser
NM_001032386.2:c.228G>C MANE Select NP_001027558.1:p.Arg76Ser
NM_000456.3:c.228G>C NP_000447.2:p.Arg76Ser
NM_001032387.2:c.228G>C NP_001027559.1:p.Arg76Ser
Search 100 bp 5'
Search 100 bp 3'