Canonical Allele Identifier: CA346226341
Gene: OSR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353165C>A , CM000664.2:g.19353165C>A GRCh38
NC_000002.11:g.19552926C>A , CM000664.1:g.19552926C>A GRCh37
NC_000002.10:g.19416407C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.641G>T MANE Select ENSP00000272223.2:p.Arg214Met
ENST00000272223.2:c.641G>T ENSP00000272223.2:p.Arg214Met
ENST00000487581.1:n.3748G>T
NM_145260.2:c.641G>T NP_660303.1:p.Arg214Met
XM_006711942.2:c.641G>T XP_006712005.1:p.Arg214Met
XM_006711942.4:c.641G>T XP_006712005.1:p.Arg214Met
NM_145260.3:c.641G>T MANE Select NP_660303.1:p.Arg214Met