Canonical Allele Identifier: CA433169385

Linked Data

MyVariant Identifiers: chr3:g.39450013G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39408522G>C , CM000665.2:g.39408522G>C GRCh38
NC_000003.11:g.39450013G>C , CM000665.1:g.39450013G>C GRCh37
NC_000003.10:g.39425017G>C NCBI36
NG_033234.1:g.6810G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000458478.6:c.134-84G>C (RPSA) ENSP00000410848.2:n.134-84G>C
ENST00000478027.3:n.600G>C (RPSA)
ENST00000697728.1:c.134-84G>C (RPSA) ENSP00000513422.1:n.134-84G>C
ENST00000697729.1:c.134-84G>C (RPSA) ENSP00000513423.1:n.134-84G>C
ENST00000697730.1:c.134-84G>C (RPSA) ENSP00000513424.1:n.134-84G>C
ENST00000697731.1:c.134-84G>C (RPSA) ENSP00000513425.1:n.134-84G>C
ENST00000697732.1:n.122-84G>C (RPSA)
ENST00000697753.1:c.134-84G>C (RPSA) ENSP00000513432.1:n.134-84G>C
ENST00000697816.1:c.*31-84G>C (RPSA) ENSP00000513451.1:n.*31-84G>C
ENST00000301821.11:c.134-84G>C (RPSA) MANE Select ENSP00000346067.4:n.134-84G>C
ENST00000301821.10:c.134-84G>C (RPSA) ENSP00000346067.4:n.134-84G>C
ENST00000443003.2:c.134-84G>C (RPSA) ENSP00000389351.1:n.134-84G>C
ENST00000444512.2:c.134-84G>C (RPSA) ENSP00000396716.2:n.134-84G>C
ENST00000458478.5:c.134-84G>C (RPSA) ENSP00000410848.1:n.134-84G>C
ENST00000477325.1:n.216-84G>C (RPSA)
ENST00000478027.2:n.319G>C (RPSA)
NM_001304288.1:c.134-84G>C (RPSA) NP_001291217.1:n.134-84G>C
NM_002295.5:c.134-84G>C (RPSA) NP_002286.2:n.134-84G>C
NR_002325.1:n.132G>C (SNORA6)
NM_002295.6:c.134-84G>C (RPSA) MANE Select NP_002286.2:n.134-84G>C
NM_001304288.2:c.134-84G>C (RPSA) NP_001291217.1:n.134-84G>C