Canonical Allele Identifier: CA2576683880
Gene: OSR1 HGNC NCBI

Linked Data

gnomAD v4: 2-19353079-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19353079G>T , CM000664.2:g.19353079G>T GRCh38
NC_000002.11:g.19552840G>T , CM000664.1:g.19552840G>T GRCh37
NC_000002.10:g.19416321G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272223.3:c.665+62C>A MANE Select ENSP00000272223.2:n.665+62C>A
ENST00000272223.2:c.665+62C>A ENSP00000272223.2:n.665+62C>A
ENST00000487581.1:n.3772+62C>A
NM_145260.2:c.665+62C>A NP_660303.1:n.665+62C>A
XM_006711942.2:c.665+62C>A XP_006712005.1:n.665+62C>A
XM_006711942.4:c.665+62C>A XP_006712005.1:n.665+62C>A
NM_145260.3:c.665+62C>A MANE Select NP_660303.1:n.665+62C>A