Canonical Allele Identifier: CA346226331
Gene: OSR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353161T>A , CM000664.2:g.19353161T>A GRCh38
NC_000002.11:g.19552922T>A , CM000664.1:g.19552922T>A GRCh37
NC_000002.10:g.19416403T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000272223.3:c.645A>T MANE Select ENSP00000272223.2:p.Gln215His
ENST00000272223.2:c.645A>T ENSP00000272223.2:p.Gln215His
ENST00000487581.1:n.3752A>T
NM_145260.2:c.645A>T NP_660303.1:p.Gln215His
XM_006711942.2:c.645A>T XP_006712005.1:p.Gln215His
XM_006711942.4:c.645A>T XP_006712005.1:p.Gln215His
NM_145260.3:c.645A>T MANE Select NP_660303.1:p.Gln215His