Canonical Allele Identifier: CA2657994281
Gene: OSR1 HGNC NCBI

Linked Data

gnomAD v4: 2-19353086-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353086A>G , CM000664.2:g.19353086A>G GRCh38
NC_000002.11:g.19552847A>G , CM000664.1:g.19552847A>G GRCh37
NC_000002.10:g.19416328A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.665+55T>C MANE Select ENSP00000272223.2:n.665+55T>C
ENST00000272223.2:c.665+55T>C ENSP00000272223.2:n.665+55T>C
ENST00000487581.1:n.3772+55T>C
NM_145260.2:c.665+55T>C NP_660303.1:n.665+55T>C
XM_006711942.2:c.665+55T>C XP_006712005.1:n.665+55T>C
XM_006711942.4:c.665+55T>C XP_006712005.1:n.665+55T>C
NM_145260.3:c.665+55T>C MANE Select NP_660303.1:n.665+55T>C