Canonical Allele Identifier: CA9443800
Community Standard Title: NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40394634C>T , CM000681.2:g.40394634C>T GRCh38
NC_000019.9:g.40900541C>T , CM000681.1:g.40900541C>T GRCh37
NC_000019.8:g.45592381C>T NCBI36
NG_007979.1:g.23731G>A , LRG_265:g.23731G>A
NG_051224.1:g.588G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.3718G>A MANE Select NP_870998.2:p.Glu1240Lys
ENST00000324001.8:c.3718G>A MANE Select ENSP00000326018.6:p.Glu1240Lys
NM_020956.2:c.*3923G>A , LRG_265t1:c.*3923G>A NP_066007.1:n.*3923G>A
NM_181882.2:c.3718G>A , LRG_265t2:c.3718G>A NP_870998.2:p.Glu1240Lys
ENST00000291825.11:c.*3923G>A ENSP00000291825.6:n.*3923G>A
ENST00000324001.7:c.3718G>A ENSP00000326018.6:p.Glu1240Lys
ENST00000673881.1:c.3301G>A ENSP00000501070.1:p.Glu1101Lys
ENST00000674005.2:c.4003G>A ENSP00000501261.1:p.Glu1335Lys
ENST00000674773.1:c.3301G>A ENSP00000502579.1:p.Glu1101Lys
ENST00000675517.1:c.3593G>A
ENST00000676076.1:c.3579G>A
ENST00000676260.1:c.3680G>A
ENST00000676316.1:c.3605G>A
XM_011527171.1:c.3718G>A XP_011525473.1:p.Glu1240Lys
XM_011527171.2:c.3718G>A XP_011525473.1:p.Glu1240Lys
XM_017027046.1:c.3616G>A XP_016882535.1:p.Glu1206Lys
XM_017027047.1:c.3616G>A XP_016882536.1:p.Glu1206Lys