Canonical Allele Identifier: CA9444272
Gene: PRX HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.40396961C>T
GRCh37 chr19:g.40902868C>T
Revel Score:
ENST00000324001 (MANE Select) 0.025
ENST00000341562 0.025
gnomAD v2:
19:40902868 C / T
gnomAD v3:
19:40396961 C / T
gnomAD v4:
chr19-40396961-C-T
Joint Max Group AF 0.00010198 (AMR)
Genomes Max Group AF 0.0000528 (AMR)
Exomes Max Group AF 0.00008861 (AMR)
ClinVar Allele:
403755
ClinVar RCV:
RCV000459879
RCV001810956
ClinVar Variation:
410600
dbSNP:
553211374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396961C>T , CM000681.2:g.40396961C>T GRCh38
NC_000019.9:g.40902868C>T , CM000681.1:g.40902868C>T GRCh37
NC_000019.8:g.45594708C>T NCBI36
NG_007979.1:g.21404G>A , LRG_265:g.21404G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324001.8:c.1391G>A MANE Select ENSP00000326018.6:p.Arg464Gln
ENST00000673881.1:c.974G>A ENSP00000501070.1:p.Arg325Gln
ENST00000674005.2:c.1676G>A ENSP00000501261.1:p.Arg559Gln
ENST00000674773.1:c.974G>A ENSP00000502579.1:p.Arg325Gln
ENST00000675517.1:c.1266G>A
ENST00000676076.1:c.1252G>A
ENST00000676260.1:c.1353G>A
ENST00000676316.1:c.1278G>A
ENST00000291825.11:c.*1596G>A ENSP00000291825.6:n.*1596G>A
ENST00000324001.7:c.1391G>A ENSP00000326018.6:p.Arg464Gln
NM_020956.2:c.*1596G>A , LRG_265t1:c.*1596G>A NP_066007.1:n.*1596G>A
NM_181882.2:c.1391G>A , LRG_265t2:c.1391G>A NP_870998.2:p.Arg464Gln
XM_011527171.1:c.1391G>A XP_011525473.1:p.Arg464Gln
XM_011527171.2:c.1391G>A XP_011525473.1:p.Arg464Gln
XM_017027046.1:c.1289G>A XP_016882535.1:p.Arg430Gln
XM_017027047.1:c.1289G>A XP_016882536.1:p.Arg430Gln
NM_181882.3:c.1391G>A MANE Select NP_870998.2:p.Arg464Gln
Search 100 bp 5'
Search 100 bp 3'