Canonical Allele Identifier: CA3747202
Gene: PSMB9 HGNC NCBI
COSMIC:
COSM6353527 (not active)
MyVariant.info:
GRCh38 chr6:g.32857313G>A
GRCh37 chr6:g.32825090G>A
Revel Score:
ENST00000395330 0.049
ENST00000414474 0.049
ENST00000374859 (MANE Select) 0.049
gnomAD v2:
6:32825090 G / A
gnomAD v3:
6:32857313 G / A
gnomAD v4:
chr6-32857313-G-A
Joint Max Group AF 0.33670936 (MID)
Genomes Max Group AF 0.27089173 (NFE)
Exomes Max Group AF 0.33496956 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32857313G>A , CM000668.2:g.32857313G>A GRCh38
NC_000006.11:g.32825090G>A , CM000668.1:g.32825090G>A GRCh37
NC_000006.10:g.32933068G>A NCBI36
NG_011759.1:g.1659C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374859.3:c.179G>A MANE Select ENSP00000363993.2:p.Arg60His
ENST00000374859.2:c.179G>A ENSP00000363993.2:p.Arg60His
ENST00000395330.5:c.110G>A ENSP00000378739.1:p.Arg37His
ENST00000414474.5:c.110G>A ENSP00000394363.1:p.Arg37His
ENST00000464863.1:n.1318G>A
ENST00000467593.1:n.160G>A
NM_002800.4:c.179G>A NP_002791.1:p.Arg60His
NM_002800.5:c.179G>A MANE Select NP_002791.1:p.Arg60His
Search 100 bp 5'
Search 100 bp 3'