Canonical Allele Identifier: CA3746493
Gene: PSMB8 HGNC NCBI
COSMIC:
COSM4161043 (not active)
MyVariant.info:
GRCh38 chr6:g.32843852G>T
GRCh37 chr6:g.32811629G>T
Revel Score:
ENST00000395339 0.070
ENST00000374882 (MANE Select) 0.070
gnomAD v2:
6:32811629 G / T
gnomAD v3:
6:32843852 G / T
gnomAD v4:
chr6-32843852-G-T
Joint Max Group AF 0.17824106 (AMR)
Genomes Max Group AF 0.17332966 (EAS)
Exomes Max Group AF 0.18787271 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843852G>T , CM000668.2:g.32843852G>T GRCh38
NC_000006.11:g.32811629G>T , CM000668.1:g.32811629G>T GRCh37
NC_000006.10:g.32919607G>T NCBI36
NG_011759.1:g.15120C>A
NG_028165.1:g.6084C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.166C>A
ENST00000697612.1:n.84C>A
ENST00000374881.3:c.135+427C>A ENSP00000364015.2:n.135+427C>A
ENST00000374882.8:c.145C>A MANE Select ENSP00000364016.4:p.Gln49Lys
ENST00000650411.1:n.706C>A
ENST00000650793.1:n.166C>A
ENST00000374881.2:c.135+427C>A ENSP00000364015.2:n.135+427C>A
ENST00000374882.7:c.145C>A ENSP00000364016.3:p.Gln49Lys
ENST00000395339.7:c.145C>A ENSP00000378748.3:p.Gln49Lys
ENST00000484003.1:n.373+427C>A
NM_004159.4:c.135+427C>A NP_004150.1:n.135+427C>A
NM_148919.3:c.145C>A NP_683720.2:p.Gln49Lys
NM_148919.4:c.145C>A MANE Select NP_683720.2:p.Gln49Lys
NM_004159.5:c.135+427C>A NP_004150.1:n.135+427C>A
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