Canonical Allele Identifier: CA405898142
Community Standard Title: NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396791G>A , CM000681.2:g.40396791G>A GRCh38
NC_000019.9:g.40902698G>A , CM000681.1:g.40902698G>A GRCh37
NC_000019.8:g.45594538G>A NCBI36
NG_007979.1:g.21574C>T , LRG_265:g.21574C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.1561C>T MANE Select NP_870998.2:p.Gln521Ter
ENST00000324001.8:c.1561C>T MANE Select ENSP00000326018.6:p.Gln521Ter
NM_020956.2:c.*1766C>T , LRG_265t1:c.*1766C>T NP_066007.1:n.*1766C>T
NM_181882.2:c.1561C>T , LRG_265t2:c.1561C>T NP_870998.2:p.Gln521Ter
ENST00000291825.11:c.*1766C>T ENSP00000291825.6:n.*1766C>T
ENST00000324001.7:c.1561C>T ENSP00000326018.6:p.Gln521Ter
ENST00000673881.1:c.1144C>T ENSP00000501070.1:p.Gln382Ter
ENST00000674005.2:c.1846C>T ENSP00000501261.1:p.Gln616Ter
ENST00000674773.1:c.1144C>T ENSP00000502579.1:p.Gln382Ter
ENST00000675517.1:c.1436C>T
ENST00000676076.1:c.1422C>T
ENST00000676260.1:c.1523C>T
ENST00000676316.1:c.1448C>T
XM_011527171.1:c.1561C>T XP_011525473.1:p.Gln521Ter
XM_011527171.2:c.1561C>T XP_011525473.1:p.Gln521Ter
XM_017027046.1:c.1459C>T XP_016882535.1:p.Gln487Ter
XM_017027047.1:c.1459C>T XP_016882536.1:p.Gln487Ter