Canonical Allele Identifier: CA1542333
Gene: OSR1 HGNC NCBI

Linked Data

dbSNP Id: rs373170559
gnomAD v2: 2-19552883-G-A
gnomAD v3: 2-19353122-G-A
gnomAD v4: 2-19353122-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353122G>A , CM000664.2:g.19353122G>A GRCh38
NC_000002.11:g.19552883G>A , CM000664.1:g.19552883G>A GRCh37
NC_000002.10:g.19416364G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.665+19C>T MANE Select ENSP00000272223.2:n.665+19C>T
ENST00000272223.2:c.665+19C>T ENSP00000272223.2:n.665+19C>T
ENST00000487581.1:n.3772+19C>T
NM_145260.2:c.665+19C>T NP_660303.1:n.665+19C>T
XM_006711942.2:c.665+19C>T XP_006712005.1:n.665+19C>T
XM_006711942.4:c.665+19C>T XP_006712005.1:n.665+19C>T
NM_145260.3:c.665+19C>T MANE Select NP_660303.1:n.665+19C>T