Canonical Allele Identifier: CA3331557

Gene: RPS23 ATG10

Linked Data

• dbSNP Id: rs372565981
• ExAC: 5:81572256 T / C
• gnomAD v2: 5-81572256-T-C
• gnomAD v3: 5-82276437-T-C
• gnomAD v4: 5-82276437-T-C
• MyVariant Identifiers: chr5:g.81572256T>C (hg19) ; chr5:g.82276437T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.82276437T>C , CM000667.2:g.82276437T>C	GRCh38
NC_000005.9:g.81572256T>C , CM000667.1:g.81572256T>C	GRCh37
NC_000005.8:g.81608012T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296674.13:c.246A>G (RPS23) MANE Select	ENSP00000296674.8:p.Thr82=
ENST00000651545.1:c.246A>G (RPS23)	ENSP00000498621.1:p.Thr82=
ENST00000296674.12:c.246A>G (RPS23)	ENSP00000296674.8:p.Thr82=
ENST00000503605.1:n.455A>G (RPS23)
ENST00000504293.5:n.341A>G (RPS23)
ENST00000507980.1:c.246A>G (RPS23)	ENSP00000422071.1:p.Thr82=
ENST00000510019.5:c.232+14A>G (RPS23)	ENSP00000425833.1:n.232+14A>G
ENST00000510210.5:c.246A>G (RPS23)	ENSP00000427043.1:p.Thr82=
ENST00000512493.5:c.246A>G (RPS23)	ENSP00000425865.1:p.Thr82=
ENST00000514253.2:n.484T>C (ATG10)
NM_001025.4:c.246A>G (RPS23)	NP_001016.1:p.Thr82=
NM_001025.5:c.246A>G (RPS23) MANE Select	NP_001016.1:p.Thr82=