Canonical Allele Identifier: CA445238224

Linked Data

dbSNP Id: rs1251680773
gnomAD v2: 5-81572289-C-T
gnomAD v4: 5-82276470-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.82276470C>T , CM000667.2:g.82276470C>T GRCh38
NC_000005.9:g.81572289C>T , CM000667.1:g.81572289C>T GRCh37
NC_000005.8:g.81608045C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296674.13:c.213G>A (RPS23) MANE Select ENSP00000296674.8:p.Arg71=
ENST00000651545.1:c.213G>A (RPS23) ENSP00000498621.1:p.Arg71=
ENST00000296674.12:c.213G>A (RPS23) ENSP00000296674.8:p.Arg71=
ENST00000503605.1:n.422G>A (RPS23)
ENST00000504293.5:n.308G>A (RPS23)
ENST00000507980.1:c.213G>A (RPS23) ENSP00000422071.1:p.Arg71=
ENST00000510019.5:c.213G>A (RPS23) ENSP00000425833.1:p.Arg71=
ENST00000510210.5:c.213G>A (RPS23) ENSP00000427043.1:p.Arg71=
ENST00000512493.5:c.213G>A (RPS23) ENSP00000425865.1:p.Arg71=
ENST00000514253.2:n.517C>T (ATG10)
NM_001025.4:c.213G>A (RPS23) NP_001016.1:p.Arg71=
NM_001025.5:c.213G>A (RPS23) MANE Select NP_001016.1:p.Arg71=