Canonical Allele Identifier: CA405897504
Community Standard Title: NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396488G>A , CM000681.2:g.40396488G>A GRCh38
NC_000019.9:g.40902395G>A , CM000681.1:g.40902395G>A GRCh37
NC_000019.8:g.45594235G>A NCBI36
NG_007979.1:g.21877C>T , LRG_265:g.21877C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.1864C>T MANE Select NP_870998.2:p.Gln622Ter
ENST00000324001.8:c.1864C>T MANE Select ENSP00000326018.6:p.Gln622Ter
NM_020956.2:c.*2069C>T , LRG_265t1:c.*2069C>T NP_066007.1:n.*2069C>T
NM_181882.2:c.1864C>T , LRG_265t2:c.1864C>T NP_870998.2:p.Gln622Ter
ENST00000291825.11:c.*2069C>T ENSP00000291825.6:n.*2069C>T
ENST00000324001.7:c.1864C>T ENSP00000326018.6:p.Gln622Ter
ENST00000673881.1:c.1447C>T ENSP00000501070.1:p.Gln483Ter
ENST00000674005.2:c.2149C>T ENSP00000501261.1:p.Gln717Ter
ENST00000674773.1:c.1447C>T ENSP00000502579.1:p.Gln483Ter
ENST00000675517.1:c.1739C>T
ENST00000676076.1:c.1725C>T
ENST00000676260.1:c.1826C>T
ENST00000676316.1:c.1751C>T
XM_011527171.1:c.1864C>T XP_011525473.1:p.Gln622Ter
XM_011527171.2:c.1864C>T XP_011525473.1:p.Gln622Ter
XM_017027046.1:c.1762C>T XP_016882535.1:p.Gln588Ter
XM_017027047.1:c.1762C>T XP_016882536.1:p.Gln588Ter