Canonical Allele Identifier: CA405896592
Gene: PRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396056C>A , CM000681.2:g.40396056C>A GRCh38
NC_000019.9:g.40901963C>A , CM000681.1:g.40901963C>A GRCh37
NC_000019.8:g.45593803C>A NCBI36
NG_007979.1:g.22309G>T , LRG_265:g.22309G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324001.8:c.2296G>T MANE Select ENSP00000326018.6:p.Val766Leu
ENST00000673881.1:c.1879G>T ENSP00000501070.1:p.Val627Leu
ENST00000674005.2:c.2581G>T ENSP00000501261.1:p.Val861Leu
ENST00000674773.1:c.1879G>T ENSP00000502579.1:p.Val627Leu
ENST00000675517.1:c.2171G>T
ENST00000676076.1:c.2157G>T
ENST00000676260.1:c.2258G>T
ENST00000676316.1:c.2183G>T
ENST00000291825.11:c.*2501G>T ENSP00000291825.6:n.*2501G>T
ENST00000324001.7:c.2296G>T ENSP00000326018.6:p.Val766Leu
NM_020956.2:c.*2501G>T , LRG_265t1:c.*2501G>T NP_066007.1:n.*2501G>T
NM_181882.2:c.2296G>T , LRG_265t2:c.2296G>T NP_870998.2:p.Val766Leu
XM_011527171.1:c.2296G>T XP_011525473.1:p.Val766Leu
XM_011527171.2:c.2296G>T XP_011525473.1:p.Val766Leu
XM_017027046.1:c.2194G>T XP_016882535.1:p.Val732Leu
XM_017027047.1:c.2194G>T XP_016882536.1:p.Val732Leu
NM_181882.3:c.2296G>T MANE Select NP_870998.2:p.Val766Leu