Canonical Allele Identifier: CA445238724

Linked Data

dbSNP Id: rs1479262553
gnomAD v2: 5-81572412-A-C
gnomAD v3: 5-82276593-A-C
gnomAD v4: 5-82276593-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.82276593A>C , CM000667.2:g.82276593A>C GRCh38
NC_000005.9:g.81572412A>C , CM000667.1:g.81572412A>C GRCh37
NC_000005.8:g.81608168A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296674.13:c.165-75T>G (RPS23) MANE Select ENSP00000296674.8:n.165-75T>G
ENST00000651545.1:c.165-75T>G (RPS23) ENSP00000498621.1:n.165-75T>G
ENST00000296674.12:c.165-75T>G (RPS23) ENSP00000296674.8:n.165-75T>G
ENST00000503605.1:n.374-75T>G (RPS23)
ENST00000504293.5:n.260-75T>G (RPS23)
ENST00000507980.1:c.165-75T>G (RPS23) ENSP00000422071.1:n.165-75T>G
ENST00000510019.5:c.165-75T>G (RPS23) ENSP00000425833.1:n.165-75T>G
ENST00000510210.5:c.165-75T>G (RPS23) ENSP00000427043.1:n.165-75T>G
ENST00000512493.5:c.165-75T>G (RPS23) ENSP00000425865.1:n.165-75T>G
ENST00000514253.2:n.640A>C (ATG10)
NM_001025.4:c.165-75T>G (RPS23) NP_001016.1:n.165-75T>G
NM_001025.5:c.165-75T>G (RPS23) MANE Select NP_001016.1:n.165-75T>G