Canonical Allele Identifier: CA273932143

Gene: RPS17

Linked Data

• ClinVar Variation Id: 506484
• ClinVar RCV Id: RCV002491242 ; RCV001704711
• dbSNP Id: rs975130647
• gnomAD v3: 15-82536888-C-T
• gnomAD v4: 15-82536888-C-T
• MyVariant Identifiers: chr15:g.82821296C>T (hg19) ; chr15:g.82536888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.82536888C>T , CM000677.2:g.82536888C>T	GRCh38
NC_000015.9:g.82821296C>T , CM000677.1:g.82821296C>T	GRCh37
NC_000015.8:g.80608351C>T	NCBI36
NG_009890.1:g.8350G>A
NG_009890.2:g.8657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562833.2:c.1675-7G>A	ENSP00000454786.2:n.1675-7G>A
ENST00000642270.1:c.1682-7G>A	ENSP00000496443.1:n.1682-7G>A
ENST00000647841.1:c.328-7G>A MANE Select	ENSP00000498019.1:n.328-7G>A
ENST00000330244.10:c.328-7G>A	ENSP00000346046.5:n.328-7G>A
ENST00000558397.1:c.449-7G>A	ENSP00000452889.1:n.449-7G>A
ENST00000560229.5:n.650-7G>A
ENST00000560612.1:n.1752G>A
ENST00000560639.1:n.860-7G>A
ENST00000561068.5:c.400-7G>A
ENST00000561157.5:c.*1334G>A	ENSP00000453910.1:n.*1334G>A
ENST00000561440.1:n.1829-7G>A
NM_001021.4:c.328-7G>A	NP_001012.1:n.328-7G>A
NR_111943.1:n.650-7G>A
NR_111944.1:n.565-7G>A
NM_001021.6:c.328-7G>A MANE Select	NP_001012.1:n.328-7G>A
NR_111944.2:n.585-7G>A
NR_111943.2:n.650-7G>A
NR_111944.3:n.478-7G>A