Canonical Allele Identifier: CA405896742
Gene: PRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396134C>A , CM000681.2:g.40396134C>A GRCh38
NC_000019.9:g.40902041C>A , CM000681.1:g.40902041C>A GRCh37
NC_000019.8:g.45593881C>A NCBI36
NG_007979.1:g.22231G>T , LRG_265:g.22231G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324001.8:c.2218G>T MANE Select ENSP00000326018.6:p.Val740Leu
ENST00000673881.1:c.1801G>T ENSP00000501070.1:p.Val601Leu
ENST00000674005.2:c.2503G>T ENSP00000501261.1:p.Val835Leu
ENST00000674773.1:c.1801G>T ENSP00000502579.1:p.Val601Leu
ENST00000675517.1:c.2093G>T
ENST00000676076.1:c.2079G>T
ENST00000676260.1:c.2180G>T
ENST00000676316.1:c.2105G>T
ENST00000291825.11:c.*2423G>T ENSP00000291825.6:n.*2423G>T
ENST00000324001.7:c.2218G>T ENSP00000326018.6:p.Val740Leu
NM_020956.2:c.*2423G>T , LRG_265t1:c.*2423G>T NP_066007.1:n.*2423G>T
NM_181882.2:c.2218G>T , LRG_265t2:c.2218G>T NP_870998.2:p.Val740Leu
XM_011527171.1:c.2218G>T XP_011525473.1:p.Val740Leu
XM_011527171.2:c.2218G>T XP_011525473.1:p.Val740Leu
XM_017027046.1:c.2116G>T XP_016882535.1:p.Val706Leu
XM_017027047.1:c.2116G>T XP_016882536.1:p.Val706Leu
NM_181882.3:c.2218G>T MANE Select NP_870998.2:p.Val740Leu