Canonical Allele Identifier: CA346226311
Gene: OSR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353153A>G , CM000664.2:g.19353153A>G GRCh38
NC_000002.11:g.19552914A>G , CM000664.1:g.19552914A>G GRCh37
NC_000002.10:g.19416395A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000272223.3:c.653T>C MANE Select ENSP00000272223.2:p.Leu218Pro
ENST00000272223.2:c.653T>C ENSP00000272223.2:p.Leu218Pro
ENST00000487581.1:n.3760T>C
NM_145260.2:c.653T>C NP_660303.1:p.Leu218Pro
XM_006711942.2:c.653T>C XP_006712005.1:p.Leu218Pro
XM_006711942.4:c.653T>C XP_006712005.1:p.Leu218Pro
NM_145260.3:c.653T>C MANE Select NP_660303.1:p.Leu218Pro