Canonical Allele Identifier: CA363589468
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2757558
ClinVar RCV Id: RCV003597044

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843019G>A , CM000668.2:g.32843019G>A GRCh38
NC_000006.11:g.32810796G>A , CM000668.1:g.32810796G>A GRCh37
NC_000006.10:g.32918774G>A NCBI36
NG_009793.3:g.752C>T
NG_028165.1:g.6917C>T
NG_009793.4:g.752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.239C>T
ENST00000697612.1:n.917C>T
ENST00000374881.3:c.206C>T ENSP00000364015.2:p.Thr69Ile
ENST00000374882.8:c.218C>T MANE Select ENSP00000364016.4:p.Thr73Ile
ENST00000650411.1:n.1539C>T
ENST00000650793.1:n.239C>T
ENST00000374881.2:c.206C>T ENSP00000364015.2:p.Thr69Ile
ENST00000374882.7:c.218C>T ENSP00000364016.3:p.Thr73Ile
ENST00000395339.7:c.218C>T ENSP00000378748.3:p.Thr73Ile
ENST00000484003.1:n.444C>T
NM_004159.4:c.206C>T NP_004150.1:p.Thr69Ile
NM_148919.3:c.218C>T NP_683720.2:p.Thr73Ile
NM_148919.4:c.218C>T MANE Select NP_683720.2:p.Thr73Ile
NM_004159.5:c.206C>T NP_004150.1:p.Thr69Ile