Canonical Allele Identifier: CA346226363

Gene: OSR1

Linked Data

• gnomAD v4: 2-19353175-C-T
• MyVariant Identifiers: chr2:g.19552936C>T (hg19) ; chr2:g.19353175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19353175C>T , CM000664.2:g.19353175C>T	GRCh38
NC_000002.11:g.19552936C>T , CM000664.1:g.19552936C>T	GRCh37
NC_000002.10:g.19416417C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272223.3:c.631G>A MANE Select	ENSP00000272223.2:p.Ala211Thr
ENST00000272223.2:c.631G>A	ENSP00000272223.2:p.Ala211Thr
ENST00000487581.1:n.3738G>A
NM_145260.2:c.631G>A	NP_660303.1:p.Ala211Thr
XM_006711942.2:c.631G>A	XP_006712005.1:p.Ala211Thr
XM_006711942.4:c.631G>A	XP_006712005.1:p.Ala211Thr
NM_145260.3:c.631G>A MANE Select	NP_660303.1:p.Ala211Thr