Canonical Allele Identifier: CA15422277
Gene: PSMB8 HGNC NCBI
COSMIC:
COSN19665484 (not active)
MyVariant.info:
GRCh38 chr6:g.32842071G>A
GRCh37 chr6:g.32809848G>A
gnomAD v2:
6:32809848 G / A
gnomAD v3:
6:32842071 G / A
gnomAD v4:
chr6-32842071-G-A
Joint Max Group AF 0.16977166 (AMR)
Genomes Max Group AF 0.15959921 (SAS)
Exomes Max Group AF 0.18032065 (AMR)
ClinVar RCV:
RCV001690385
RCV003401616
ClinVar Variation:
1277080
dbSNP:
9357155
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842071G>A , CM000668.2:g.32842071G>A GRCh38
NC_000006.11:g.32809848G>A , CM000668.1:g.32809848G>A GRCh37
NC_000006.10:g.32917826G>A NCBI36
NG_009793.3:g.1700C>T
NG_028165.1:g.7865C>T
NG_009793.4:g.1700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.1187C>T
ENST00000697612.1:n.1394+63C>T
ENST00000374881.3:c.525+63C>T ENSP00000364015.2:n.525+63C>T
ENST00000374882.8:c.537+63C>T MANE Select ENSP00000364016.4:n.537+63C>T
ENST00000650411.1:n.1858+63C>T
ENST00000650793.1:n.1187C>T
ENST00000374881.2:c.525+63C>T ENSP00000364015.2:n.525+63C>T
ENST00000374882.7:c.537+63C>T ENSP00000364016.3:n.537+63C>T
ENST00000395339.7:c.465+63C>T ENSP00000378748.3:n.465+63C>T
ENST00000484003.1:n.921+63C>T
NM_004159.4:c.525+63C>T NP_004150.1:n.525+63C>T
NM_148919.3:c.537+63C>T NP_683720.2:n.537+63C>T
NM_148919.4:c.537+63C>T MANE Select NP_683720.2:n.537+63C>T
NM_004159.5:c.525+63C>T NP_004150.1:n.525+63C>T
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