Canonical Allele Identifier: CA9443985
Community Standard Title: NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40395602C>T , CM000681.2:g.40395602C>T GRCh38
NC_000019.9:g.40901509C>T , CM000681.1:g.40901509C>T GRCh37
NC_000019.8:g.45593349C>T NCBI36
NG_007979.1:g.22763G>A , LRG_265:g.22763G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.2750G>A MANE Select NP_870998.2:p.Arg917Gln
ENST00000324001.8:c.2750G>A MANE Select ENSP00000326018.6:p.Arg917Gln
NM_020956.2:c.*2955G>A , LRG_265t1:c.*2955G>A NP_066007.1:n.*2955G>A
NM_181882.2:c.2750G>A , LRG_265t2:c.2750G>A NP_870998.2:p.Arg917Gln
ENST00000291825.11:c.*2955G>A ENSP00000291825.6:n.*2955G>A
ENST00000324001.7:c.2750G>A ENSP00000326018.6:p.Arg917Gln
ENST00000673881.1:c.2333G>A ENSP00000501070.1:p.Arg778Gln
ENST00000674005.2:c.3035G>A ENSP00000501261.1:p.Arg1012Gln
ENST00000674773.1:c.2333G>A ENSP00000502579.1:p.Arg778Gln
ENST00000675517.1:c.2625G>A
ENST00000676076.1:c.2611G>A
ENST00000676260.1:c.2712G>A
ENST00000676316.1:c.2637G>A
XM_011527171.1:c.2750G>A XP_011525473.1:p.Arg917Gln
XM_011527171.2:c.2750G>A XP_011525473.1:p.Arg917Gln
XM_017027046.1:c.2648G>A XP_016882535.1:p.Arg883Gln
XM_017027047.1:c.2648G>A XP_016882536.1:p.Arg883Gln