Canonical Allele Identifier: CA6840159
Gene: PSMD9 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.121915890A>C
GRCh37 chr12:g.122353796A>C
Revel Score:
ENST00000541212 (MANE Select) 0.059
ENST00000261817 0.059
ENST00000544724 0.059
ENST00000542602 0.059
gnomAD v2:
12:122353796 A / C
gnomAD v4:
chr12-121915890-A-C
Joint Max Group AF 0.00000876 (SAS)
Exomes Max Group AF 0.00000925 (SAS)
dbSNP:
14259
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000541212.6:c.590A>C MANE Select ENSP00000440485.1:p.Glu197Ala
ENST00000261817.6:c.587A>C ENSP00000261817.2:p.Glu196Ala
ENST00000361485.5:n.1673A>C
ENST00000535293.5:c.*94A>C ENSP00000443968.1:n.*94A>C
ENST00000537407.5:c.*25A>C ENSP00000445058.1:n.*25A>C
ENST00000540962.5:c.*120A>C ENSP00000442210.1:n.*120A>C
ENST00000541212.5:c.590A>C ENSP00000440485.1:p.Glu197Ala
ENST00000542602.1:c.275A>C ENSP00000443772.1:p.Glu92Ala
ENST00000543699.5:c.*94A>C ENSP00000440500.1:n.*94A>C
ENST00000544254.1:n.1095A>C
ENST00000544724.5:n.2712A>C
ENST00000544911.1:n.558A>C
ENST00000546333.1:c.*86-5396A>C ENSP00000477146.1:n.*86-5396A>C
NM_001261400.2:c.275A>C NP_001248329.1:p.Glu92Ala
NM_002813.6:c.590A>C NP_002804.2:p.Glu197Ala
NR_048555.2:n.504A>C
NM_001261400.3:c.275A>C NP_001248329.1:p.Glu92Ala
NM_002813.7:c.590A>C MANE Select NP_002804.2:p.Glu197Ala
NR_048555.3:n.445A>C
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