Canonical Allele Identifier: CA433169251

Gene: RPSA SNORA6

Linked Data

• dbSNP Id: rs961880947
• gnomAD v2: 3-39449971-G-C
• gnomAD v4: 3-39408480-G-C
• MyVariant Identifiers: chr3:g.39449971G>C (hg19) ; chr3:g.39449971_39449972delinsCC (hg19) ; chr3:g.39408480_39408481delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39408480G>C , CM000665.2:g.39408480G>C	GRCh38
NC_000003.11:g.39449971G>C , CM000665.1:g.39449971G>C	GRCh37
NC_000003.10:g.39424975G>C	NCBI36
NG_033234.1:g.6768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458478.6:c.134-126G>C (RPSA)	ENSP00000410848.2:n.134-126G>C
ENST00000478027.3:n.558G>C (RPSA)
ENST00000697728.1:c.134-126G>C (RPSA)	ENSP00000513422.1:n.134-126G>C
ENST00000697729.1:c.134-126G>C (RPSA)	ENSP00000513423.1:n.134-126G>C
ENST00000697730.1:c.134-126G>C (RPSA)	ENSP00000513424.1:n.134-126G>C
ENST00000697731.1:c.134-126G>C (RPSA)	ENSP00000513425.1:n.134-126G>C
ENST00000697732.1:n.122-126G>C (RPSA)
ENST00000697753.1:c.134-126G>C (RPSA)	ENSP00000513432.1:n.134-126G>C
ENST00000697816.1:c.*31-126G>C (RPSA)	ENSP00000513451.1:n.*31-126G>C
ENST00000301821.11:c.134-126G>C (RPSA) MANE Select	ENSP00000346067.4:n.134-126G>C
ENST00000301821.10:c.134-126G>C (RPSA)	ENSP00000346067.4:n.134-126G>C
ENST00000443003.2:c.134-126G>C (RPSA)	ENSP00000389351.1:n.134-126G>C
ENST00000444512.2:c.134-126G>C (RPSA)	ENSP00000396716.2:n.134-126G>C
ENST00000458478.5:c.134-126G>C (RPSA)	ENSP00000410848.1:n.134-126G>C
ENST00000477325.1:n.216-126G>C (RPSA)
ENST00000478027.2:n.277G>C (RPSA)
NM_001304288.1:c.134-126G>C (RPSA)	NP_001291217.1:n.134-126G>C
NM_002295.5:c.134-126G>C (RPSA)	NP_002286.2:n.134-126G>C
NR_002325.1:n.90G>C (SNORA6)
NM_002295.6:c.134-126G>C (RPSA) MANE Select	NP_002286.2:n.134-126G>C
NM_001304288.2:c.134-126G>C (RPSA)	NP_001291217.1:n.134-126G>C