Canonical Allele Identifier: CA385283260

Gene: SUOX

Linked Data

• gnomAD v4: 12-56003774-G-C
• MyVariant Identifiers: chr12:g.56397558G>C (hg19) ; chr12:g.56003774G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56003774G>C , CM000674.2:g.56003774G>C	GRCh38
NC_000012.11:g.56397558G>C , CM000674.1:g.56397558G>C	GRCh37
NC_000012.10:g.54683825G>C	NCBI36
NG_008136.1:g.11516G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.385G>C MANE Select	ENSP00000266971.3:p.Ala129Pro
ENST00000266971.7:c.385G>C	ENSP00000266971.3:p.Ala129Pro
ENST00000356124.8:c.385G>C	ENSP00000348440.4:p.Ala129Pro
ENST00000394109.7:c.385G>C	ENSP00000377668.3:p.Ala129Pro
ENST00000394115.6:c.385G>C	ENSP00000377674.2:p.Ala129Pro
ENST00000546833.5:c.385G>C	ENSP00000449872.1:p.Ala129Pro
ENST00000548274.5:c.385G>C	ENSP00000450245.1:p.Ala129Pro
ENST00000550065.1:c.385G>C	ENSP00000450264.1:p.Ala129Pro
ENST00000550340.5:n.270G>C
ENST00000550478.5:n.464G>C
ENST00000551698.5:n.407G>C
ENST00000551841.6:c.267+118G>C	ENSP00000449443.1:n.267+118G>C
ENST00000552363.5:n.238G>C
NM_000456.2:c.385G>C	NP_000447.2:p.Ala129Pro
NM_001032386.1:c.385G>C	NP_001027558.1:p.Ala129Pro
NM_001032387.1:c.385G>C	NP_001027559.1:p.Ala129Pro
XM_005269112.1:c.406G>C	XP_005269169.1:p.Ala136Pro
XM_017019905.2:c.406G>C	XP_016875394.1:p.Ala136Pro
XM_017019906.1:c.406G>C	XP_016875395.1:p.Ala136Pro
XM_017019907.2:c.385G>C	XP_016875396.1:p.Ala129Pro
XM_017019908.1:c.385G>C	XP_016875397.1:p.Ala129Pro
XM_024449167.1:c.406G>C	XP_024304935.1:p.Ala136Pro
NM_001032386.2:c.385G>C MANE Select	NP_001027558.1:p.Ala129Pro
NM_000456.3:c.385G>C	NP_000447.2:p.Ala129Pro
NM_001032387.2:c.385G>C	NP_001027559.1:p.Ala129Pro