Canonical Allele Identifier: CA2068166451
Community Standard Title: NM_002813.7(PSMD9):c.590A= (p.Glu197=)
Gene: PSMD9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121915890A= , CM000674.2:g.121915890A= GRCh38
NC_000012.11:g.122353796A= , CM000674.1:g.122353796A= GRCh37
NC_000012.10:g.120838179A= NCBI36
NG_021364.1:g.2334A=
NG_021364.2:g.2334A=

Transcript Alleles

HGVS Amino-acid Change
NM_002813.7:c.590A= MANE Select NP_002804.2:p.Glu197=
ENST00000541212.6:c.590A= MANE Select ENSP00000440485.1:p.Glu197=
NM_001261400.2:c.275A= NP_001248329.1:p.Glu92=
NM_001261400.3:c.275A= NP_001248329.1:p.Glu92=
NM_002813.6:c.590A= NP_002804.2:p.Glu197=
NR_048555.2:n.504A=
NR_048555.3:n.445A=
ENST00000261817.6:c.587A= ENSP00000261817.2:p.Glu196=
ENST00000361485.5:n.1673A=
ENST00000535293.5:c.*94A= ENSP00000443968.1:n.*94A=
ENST00000537407.5:c.*25A= ENSP00000445058.1:n.*25A=
ENST00000540962.5:c.*120A= ENSP00000442210.1:n.*120A=
ENST00000541212.5:c.590A= ENSP00000440485.1:p.Glu197=
ENST00000542602.1:c.275A= ENSP00000443772.1:p.Glu92=
ENST00000543699.5:c.*94A= ENSP00000440500.1:n.*94A=
ENST00000544254.1:n.1095A=
ENST00000544724.5:n.2712A=
ENST00000544911.1:n.558A=
ENST00000546333.1:c.*86-5396A= ENSP00000477146.1:n.*86-5396A=