Canonical Allele Identifier: CA346226290
Gene: OSR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353143G>T , CM000664.2:g.19353143G>T GRCh38
NC_000002.11:g.19552904G>T , CM000664.1:g.19552904G>T GRCh37
NC_000002.10:g.19416385G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.663C>A MANE Select ENSP00000272223.2:p.His221Gln
ENST00000272223.2:c.663C>A ENSP00000272223.2:p.His221Gln
ENST00000487581.1:n.3770C>A
NM_145260.2:c.663C>A NP_660303.1:p.His221Gln
XM_006711942.2:c.663C>A XP_006712005.1:p.His221Gln
XM_006711942.4:c.663C>A XP_006712005.1:p.His221Gln
NM_145260.3:c.663C>A MANE Select NP_660303.1:p.His221Gln