Canonical Allele Identifier: CA360355924

Gene: RPS23 ATG10

Linked Data

• dbSNP Id: rs1747775778
• gnomAD v4: 5-82276451-C-T
• MyVariant Identifiers: chr5:g.81572270C>T (hg19) ; chr5:g.82276451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.82276451C>T , CM000667.2:g.82276451C>T	GRCh38
NC_000005.9:g.81572270C>T , CM000667.1:g.81572270C>T	GRCh37
NC_000005.8:g.81608026C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296674.13:c.232G>A (RPS23) MANE Select	ENSP00000296674.8:p.Gly78Ser
ENST00000651545.1:c.232G>A (RPS23)	ENSP00000498621.1:p.Gly78Ser
ENST00000296674.12:c.232G>A (RPS23)	ENSP00000296674.8:p.Gly78Ser
ENST00000503605.1:n.441G>A (RPS23)
ENST00000504293.5:n.327G>A (RPS23)
ENST00000507980.1:c.232G>A (RPS23)	ENSP00000422071.1:p.Gly78Ser
ENST00000510019.5:c.232G>A (RPS23)	ENSP00000425833.1:p.Gly78Ser
ENST00000510210.5:c.232G>A (RPS23)	ENSP00000427043.1:p.Gly78Ser
ENST00000512493.5:c.232G>A (RPS23)	ENSP00000425865.1:p.Gly78Ser
ENST00000514253.2:n.498C>T (ATG10)
NM_001025.4:c.232G>A (RPS23)	NP_001016.1:p.Gly78Ser
NM_001025.5:c.232G>A (RPS23) MANE Select	NP_001016.1:p.Gly78Ser