Canonical Allele Identifier: CA9444276
Gene: PRX HGNC NCBI

Linked Data

ClinVar Variation Id: 476949
dbSNP Id: rs142064826

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396983C>T , CM000681.2:g.40396983C>T GRCh38
NC_000019.9:g.40902890C>T , CM000681.1:g.40902890C>T GRCh37
NC_000019.8:g.45594730C>T NCBI36
NG_007979.1:g.21382G>A , LRG_265:g.21382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324001.8:c.1369G>A MANE Select ENSP00000326018.6:p.Glu457Lys
ENST00000673881.1:c.952G>A ENSP00000501070.1:p.Glu318Lys
ENST00000674005.2:c.1654G>A ENSP00000501261.1:p.Glu552Lys
ENST00000674773.1:c.952G>A ENSP00000502579.1:p.Glu318Lys
ENST00000675517.1:c.1244G>A
ENST00000676076.1:c.1230G>A
ENST00000676260.1:c.1331G>A
ENST00000676316.1:c.1256G>A
ENST00000291825.11:c.*1574G>A ENSP00000291825.6:n.*1574G>A
ENST00000324001.7:c.1369G>A ENSP00000326018.6:p.Glu457Lys
NM_020956.2:c.*1574G>A , LRG_265t1:c.*1574G>A NP_066007.1:n.*1574G>A
NM_181882.2:c.1369G>A , LRG_265t2:c.1369G>A NP_870998.2:p.Glu457Lys
XM_011527171.1:c.1369G>A XP_011525473.1:p.Glu457Lys
XM_011527171.2:c.1369G>A XP_011525473.1:p.Glu457Lys
XM_017027046.1:c.1267G>A XP_016882535.1:p.Glu423Lys
XM_017027047.1:c.1267G>A XP_016882536.1:p.Glu423Lys
NM_181882.3:c.1369G>A MANE Select NP_870998.2:p.Glu457Lys