Canonical Allele Identifier: CA273932819

Gene: RPS17

Linked Data

• ClinVar Variation Id: 419839
• ClinVar RCV Id: RCV000478127 ; RCV002402391
• dbSNP Id: rs6991
• gnomAD v3: 15-82538982-A-G
• gnomAD v4: 15-82538982-A-G
• MyVariant Identifiers: chr15:g.82823390A>G (hg19) ; chr15:g.82538982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82538982A>G , CM000677.2:g.82538982A>G	GRCh38
NC_000015.9:g.82823390A>G , CM000677.1:g.82823390A>G	GRCh37
NC_000015.8:g.80610445A>G	NCBI36
NG_009890.1:g.6256T>C
NG_009890.2:g.6563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560229.6:n.481T>C
ENST00000562833.2:c.1506T>C	ENSP00000454786.2:p.Tyr502=
ENST00000642270.1:c.1513T>C	ENSP00000496443.1:n.1513T>C
ENST00000647841.1:c.159T>C MANE Select	ENSP00000498019.1:p.Tyr53=
ENST00000330244.10:c.159T>C	ENSP00000346046.5:p.Tyr53=
ENST00000558397.1:c.159T>C	ENSP00000452889.1:p.Tyr53=
ENST00000559776.1:n.443T>C
ENST00000560229.5:n.481T>C
ENST00000560612.1:n.166T>C
ENST00000560639.1:n.183T>C
ENST00000561068.5:c.231T>C
ENST00000561157.5:c.159T>C	ENSP00000453910.1:p.Tyr53=
ENST00000561440.1:n.1152T>C
NM_001021.4:c.159T>C	NP_001012.1:p.Tyr53=
NR_111943.1:n.481T>C
NR_111944.1:n.275T>C
NM_001021.6:c.159T>C MANE Select	NP_001012.1:p.Tyr53=
NR_111944.2:n.295T>C
NR_111943.2:n.481T>C
NR_111944.3:n.188T>C