Canonical Allele Identifier: CA360355809

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.82276403T>G , CM000667.2:g.82276403T>G GRCh38
NC_000005.9:g.81572222T>G , CM000667.1:g.81572222T>G GRCh37
NC_000005.8:g.81607978T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296674.13:c.280A>C (RPS23) MANE Select ENSP00000296674.8:p.Ile94Leu
ENST00000651545.1:c.280A>C (RPS23) ENSP00000498621.1:p.Ile94Leu
ENST00000296674.12:c.280A>C (RPS23) ENSP00000296674.8:p.Ile94Leu
ENST00000503605.1:n.489A>C (RPS23)
ENST00000504293.5:n.375A>C (RPS23)
ENST00000507980.1:c.280A>C (RPS23) ENSP00000422071.1:p.Ile94Leu
ENST00000510019.5:c.232+48A>C (RPS23) ENSP00000425833.1:n.232+48A>C
ENST00000510210.5:c.280A>C (RPS23) ENSP00000427043.1:p.Ile94Leu
ENST00000512493.5:c.280A>C (RPS23) ENSP00000425865.1:p.Ile94Leu
ENST00000514253.2:n.450T>G (ATG10)
NM_001025.4:c.280A>C (RPS23) NP_001016.1:p.Ile94Leu
NM_001025.5:c.280A>C (RPS23) MANE Select NP_001016.1:p.Ile94Leu