Canonical Allele Identifier: CA121912027

Linked Data

dbSNP Id: rs75377932
gnomAD v2: 5-81572492-C-A
gnomAD v3: 5-82276673-C-A
gnomAD v4: 5-82276673-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.82276673C>A , CM000667.2:g.82276673C>A GRCh38
NC_000005.9:g.81572492C>A , CM000667.1:g.81572492C>A GRCh37
NC_000005.8:g.81608248C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296674.13:c.165-155G>T (RPS23) MANE Select ENSP00000296674.8:n.165-155G>T
ENST00000651545.1:c.165-155G>T (RPS23) ENSP00000498621.1:n.165-155G>T
ENST00000296674.12:c.165-155G>T (RPS23) ENSP00000296674.8:n.165-155G>T
ENST00000503605.1:n.374-155G>T (RPS23)
ENST00000504293.5:n.260-155G>T (RPS23)
ENST00000507980.1:c.165-155G>T (RPS23) ENSP00000422071.1:n.165-155G>T
ENST00000510019.5:c.165-155G>T (RPS23) ENSP00000425833.1:n.165-155G>T
ENST00000510210.5:c.165-155G>T (RPS23) ENSP00000427043.1:n.165-155G>T
ENST00000512493.5:c.165-155G>T (RPS23) ENSP00000425865.1:n.165-155G>T
ENST00000514253.2:n.720C>A (ATG10)
NM_001025.4:c.165-155G>T (RPS23) NP_001016.1:n.165-155G>T
NM_001025.5:c.165-155G>T (RPS23) MANE Select NP_001016.1:n.165-155G>T