Canonical Allele Identifier: CA1542332
Gene: OSR1 HGNC NCBI

Linked Data

dbSNP Id: rs566509983
gnomAD v2: 2-19552882-C-A
gnomAD v3: 2-19353121-C-A
gnomAD v4: 2-19353121-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353121C>A , CM000664.2:g.19353121C>A GRCh38
NC_000002.11:g.19552882C>A , CM000664.1:g.19552882C>A GRCh37
NC_000002.10:g.19416363C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.665+20G>T MANE Select ENSP00000272223.2:n.665+20G>T
ENST00000272223.2:c.665+20G>T ENSP00000272223.2:n.665+20G>T
ENST00000487581.1:n.3772+20G>T
NM_145260.2:c.665+20G>T NP_660303.1:n.665+20G>T
XM_006711942.2:c.665+20G>T XP_006712005.1:n.665+20G>T
XM_006711942.4:c.665+20G>T XP_006712005.1:n.665+20G>T
NM_145260.3:c.665+20G>T MANE Select NP_660303.1:n.665+20G>T