Canonical Allele Identifier: CA433169299

Linked Data

gnomAD v4: 3-39408495-G-A
MyVariant Identifiers: chr3:g.39449986G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39408495G>A , CM000665.2:g.39408495G>A GRCh38
NC_000003.11:g.39449986G>A , CM000665.1:g.39449986G>A GRCh37
NC_000003.10:g.39424990G>A NCBI36
NG_033234.1:g.6783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000458478.6:c.134-111G>A (RPSA) ENSP00000410848.2:n.134-111G>A
ENST00000478027.3:n.573G>A (RPSA)
ENST00000697728.1:c.134-111G>A (RPSA) ENSP00000513422.1:n.134-111G>A
ENST00000697729.1:c.134-111G>A (RPSA) ENSP00000513423.1:n.134-111G>A
ENST00000697730.1:c.134-111G>A (RPSA) ENSP00000513424.1:n.134-111G>A
ENST00000697731.1:c.134-111G>A (RPSA) ENSP00000513425.1:n.134-111G>A
ENST00000697732.1:n.122-111G>A (RPSA)
ENST00000697753.1:c.134-111G>A (RPSA) ENSP00000513432.1:n.134-111G>A
ENST00000697816.1:c.*31-111G>A (RPSA) ENSP00000513451.1:n.*31-111G>A
ENST00000301821.11:c.134-111G>A (RPSA) MANE Select ENSP00000346067.4:n.134-111G>A
ENST00000301821.10:c.134-111G>A (RPSA) ENSP00000346067.4:n.134-111G>A
ENST00000443003.2:c.134-111G>A (RPSA) ENSP00000389351.1:n.134-111G>A
ENST00000444512.2:c.134-111G>A (RPSA) ENSP00000396716.2:n.134-111G>A
ENST00000458478.5:c.134-111G>A (RPSA) ENSP00000410848.1:n.134-111G>A
ENST00000477325.1:n.216-111G>A (RPSA)
ENST00000478027.2:n.292G>A (RPSA)
NM_001304288.1:c.134-111G>A (RPSA) NP_001291217.1:n.134-111G>A
NM_002295.5:c.134-111G>A (RPSA) NP_002286.2:n.134-111G>A
NR_002325.1:n.105G>A (SNORA6)
NM_002295.6:c.134-111G>A (RPSA) MANE Select NP_002286.2:n.134-111G>A
NM_001304288.2:c.134-111G>A (RPSA) NP_001291217.1:n.134-111G>A