Canonical Allele Identifier: CA9443844
Community Standard Title: NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter)
Gene: PRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40394847G>A , CM000681.2:g.40394847G>A GRCh38
NC_000019.9:g.40900754G>A , CM000681.1:g.40900754G>A GRCh37
NC_000019.8:g.45592594G>A NCBI36
NG_007979.1:g.23518C>T , LRG_265:g.23518C>T
NG_051224.1:g.375C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181882.3:c.3505C>T MANE Select NP_870998.2:p.Gln1169Ter
ENST00000324001.8:c.3505C>T MANE Select ENSP00000326018.6:p.Gln1169Ter
NM_020956.2:c.*3710C>T , LRG_265t1:c.*3710C>T NP_066007.1:n.*3710C>T
NM_181882.2:c.3505C>T , LRG_265t2:c.3505C>T NP_870998.2:p.Gln1169Ter
ENST00000291825.11:c.*3710C>T ENSP00000291825.6:n.*3710C>T
ENST00000324001.7:c.3505C>T ENSP00000326018.6:p.Gln1169Ter
ENST00000673881.1:c.3088C>T ENSP00000501070.1:p.Gln1030Ter
ENST00000674005.2:c.3790C>T ENSP00000501261.1:p.Gln1264Ter
ENST00000674773.1:c.3088C>T ENSP00000502579.1:p.Gln1030Ter
ENST00000675517.1:c.3380C>T
ENST00000676076.1:c.3366C>T
ENST00000676260.1:c.3467C>T
ENST00000676316.1:c.3392C>T
XM_011527171.1:c.3505C>T XP_011525473.1:p.Gln1169Ter
XM_011527171.2:c.3505C>T XP_011525473.1:p.Gln1169Ter
XM_017027046.1:c.3403C>T XP_016882535.1:p.Gln1135Ter
XM_017027047.1:c.3403C>T XP_016882536.1:p.Gln1135Ter