Canonical Allele Identifier: CA445238125

Linked Data

gnomAD v4: 5-82276434-G-A
MyVariant Identifiers: chr5:g.81572253G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.82276434G>A , CM000667.2:g.82276434G>A GRCh38
NC_000005.9:g.81572253G>A , CM000667.1:g.81572253G>A GRCh37
NC_000005.8:g.81608009G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296674.13:c.249C>T (RPS23) MANE Select ENSP00000296674.8:p.Ala83=
ENST00000651545.1:c.249C>T (RPS23) ENSP00000498621.1:p.Ala83=
ENST00000296674.12:c.249C>T (RPS23) ENSP00000296674.8:p.Ala83=
ENST00000503605.1:n.458C>T (RPS23)
ENST00000504293.5:n.344C>T (RPS23)
ENST00000507980.1:c.249C>T (RPS23) ENSP00000422071.1:p.Ala83=
ENST00000510019.5:c.232+17C>T (RPS23) ENSP00000425833.1:n.232+17C>T
ENST00000510210.5:c.249C>T (RPS23) ENSP00000427043.1:p.Ala83=
ENST00000512493.5:c.249C>T (RPS23) ENSP00000425865.1:p.Ala83=
ENST00000514253.2:n.481G>A (ATG10)
NM_001025.4:c.249C>T (RPS23) NP_001016.1:p.Ala83=
NM_001025.5:c.249C>T (RPS23) MANE Select NP_001016.1:p.Ala83=