Canonical Allele Identifier: CA405897164
Gene: PRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396329C>G , CM000681.2:g.40396329C>G GRCh38
NC_000019.9:g.40902236C>G , CM000681.1:g.40902236C>G GRCh37
NC_000019.8:g.45594076C>G NCBI36
NG_007979.1:g.22036G>C , LRG_265:g.22036G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324001.8:c.2023G>C MANE Select ENSP00000326018.6:p.Val675Leu
ENST00000673881.1:c.1606G>C ENSP00000501070.1:p.Val536Leu
ENST00000674005.2:c.2308G>C ENSP00000501261.1:p.Val770Leu
ENST00000674773.1:c.1606G>C ENSP00000502579.1:p.Val536Leu
ENST00000675517.1:c.1898G>C
ENST00000676076.1:c.1884G>C
ENST00000676260.1:c.1985G>C
ENST00000676316.1:c.1910G>C
ENST00000291825.11:c.*2228G>C ENSP00000291825.6:n.*2228G>C
ENST00000324001.7:c.2023G>C ENSP00000326018.6:p.Val675Leu
NM_020956.2:c.*2228G>C , LRG_265t1:c.*2228G>C NP_066007.1:n.*2228G>C
NM_181882.2:c.2023G>C , LRG_265t2:c.2023G>C NP_870998.2:p.Val675Leu
XM_011527171.1:c.2023G>C XP_011525473.1:p.Val675Leu
XM_011527171.2:c.2023G>C XP_011525473.1:p.Val675Leu
XM_017027046.1:c.1921G>C XP_016882535.1:p.Val641Leu
XM_017027047.1:c.1921G>C XP_016882536.1:p.Val641Leu
NM_181882.3:c.2023G>C MANE Select NP_870998.2:p.Val675Leu