Canonical Allele Identifier: CA507679065
Community Standard Title: NM_181882.3(PRX):c.2509C>T (p.Leu837=)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40395843G>A , CM000681.2:g.40395843G>A GRCh38
NC_000019.9:g.40901750G>A , CM000681.1:g.40901750G>A GRCh37
NC_000019.8:g.45593590G>A NCBI36
NG_007979.1:g.22522C>T , LRG_265:g.22522C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.2509C>T MANE Select NP_870998.2:p.Leu837=
ENST00000324001.8:c.2509C>T MANE Select ENSP00000326018.6:p.Leu837=
NM_020956.2:c.*2714C>T , LRG_265t1:c.*2714C>T NP_066007.1:n.*2714C>T
NM_181882.2:c.2509C>T , LRG_265t2:c.2509C>T NP_870998.2:p.Leu837=
ENST00000291825.11:c.*2714C>T ENSP00000291825.6:n.*2714C>T
ENST00000324001.7:c.2509C>T ENSP00000326018.6:p.Leu837=
ENST00000673881.1:c.2092C>T ENSP00000501070.1:p.Leu698=
ENST00000674005.2:c.2794C>T ENSP00000501261.1:p.Leu932=
ENST00000674773.1:c.2092C>T ENSP00000502579.1:p.Leu698=
ENST00000675517.1:c.2384C>T
ENST00000676076.1:c.2370C>T
ENST00000676260.1:c.2471C>T
ENST00000676316.1:c.2396C>T
XM_011527171.1:c.2509C>T XP_011525473.1:p.Leu837=
XM_011527171.2:c.2509C>T XP_011525473.1:p.Leu837=
XM_017027046.1:c.2407C>T XP_016882535.1:p.Leu803=
XM_017027047.1:c.2407C>T XP_016882536.1:p.Leu803=