Canonical Allele Identifier: CA385284460

Gene: SUOX

Linked Data

• ClinVar Variation Id: 1423640
• ClinVar RCV Id: RCV001928979
• dbSNP Id: rs1350131784
• MyVariant Identifiers: chr12:g.56397714G>C (hg19) ; chr12:g.56003930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003930G>C , CM000674.2:g.56003930G>C	GRCh38
NC_000012.11:g.56397714G>C , CM000674.1:g.56397714G>C	GRCh37
NC_000012.10:g.54683981G>C	NCBI36
NG_008136.1:g.11672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.541G>C MANE Select	ENSP00000266971.3:p.Val181Leu
ENST00000266971.7:c.541G>C	ENSP00000266971.3:p.Val181Leu
ENST00000356124.8:c.541G>C	ENSP00000348440.4:p.Val181Leu
ENST00000394109.7:c.541G>C	ENSP00000377668.3:p.Val181Leu
ENST00000394115.6:c.541G>C	ENSP00000377674.2:p.Val181Leu
ENST00000548274.5:c.541G>C	ENSP00000450245.1:p.Val181Leu
ENST00000550065.1:c.541G>C	ENSP00000450264.1:p.Val181Leu
ENST00000550340.5:n.426G>C
ENST00000551698.5:n.563G>C
ENST00000551841.6:c.268-224G>C	ENSP00000449443.1:n.268-224G>C
NM_000456.2:c.541G>C	NP_000447.2:p.Val181Leu
NM_001032386.1:c.541G>C	NP_001027558.1:p.Val181Leu
NM_001032387.1:c.541G>C	NP_001027559.1:p.Val181Leu
XM_005269112.1:c.562G>C	XP_005269169.1:p.Val188Leu
XM_017019905.2:c.562G>C	XP_016875394.1:p.Val188Leu
XM_017019906.1:c.562G>C	XP_016875395.1:p.Val188Leu
XM_017019907.2:c.541G>C	XP_016875396.1:p.Val181Leu
XM_017019908.1:c.541G>C	XP_016875397.1:p.Val181Leu
XM_024449167.1:c.562G>C	XP_024304935.1:p.Val188Leu
NM_001032386.2:c.541G>C MANE Select	NP_001027558.1:p.Val181Leu
NM_000456.3:c.541G>C	NP_000447.2:p.Val181Leu
NM_001032387.2:c.541G>C	NP_001027559.1:p.Val181Leu