Canonical Allele Identifier: CA9444132
Gene: PRX HGNC NCBI

Linked Data

ClinVar Variation Id: 289454
dbSNP Id: rs56743160

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396309G>A , CM000681.2:g.40396309G>A GRCh38
NC_000019.9:g.40902216G>A , CM000681.1:g.40902216G>A GRCh37
NC_000019.8:g.45594056G>A NCBI36
NG_007979.1:g.22056C>T , LRG_265:g.22056C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324001.8:c.2043C>T MANE Select ENSP00000326018.6:p.Pro681=
ENST00000673881.1:c.1626C>T ENSP00000501070.1:p.Pro542=
ENST00000674005.2:c.2328C>T ENSP00000501261.1:p.Pro776=
ENST00000674773.1:c.1626C>T ENSP00000502579.1:p.Pro542=
ENST00000675517.1:c.1918C>T
ENST00000676076.1:c.1904C>T
ENST00000676260.1:c.2005C>T
ENST00000676316.1:c.1930C>T
ENST00000291825.11:c.*2248C>T ENSP00000291825.6:n.*2248C>T
ENST00000324001.7:c.2043C>T ENSP00000326018.6:p.Pro681=
NM_020956.2:c.*2248C>T , LRG_265t1:c.*2248C>T NP_066007.1:n.*2248C>T
NM_181882.2:c.2043C>T , LRG_265t2:c.2043C>T NP_870998.2:p.Pro681=
XM_011527171.1:c.2043C>T XP_011525473.1:p.Pro681=
XM_011527171.2:c.2043C>T XP_011525473.1:p.Pro681=
XM_017027046.1:c.1941C>T XP_016882535.1:p.Pro647=
XM_017027047.1:c.1941C>T XP_016882536.1:p.Pro647=
NM_181882.3:c.2043C>T MANE Select NP_870998.2:p.Pro681=