Canonical Allele Identifier: CA363589515
Gene: PSMB8 HGNC NCBI

Linked Data

gnomAD v4: 6-32843039-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843039C>A , CM000668.2:g.32843039C>A GRCh38
NC_000006.11:g.32810816C>A , CM000668.1:g.32810816C>A GRCh37
NC_000006.10:g.32918794C>A NCBI36
NG_009793.3:g.732G>T
NG_028165.1:g.6897G>T
NG_009793.4:g.732G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.219G>T
ENST00000697612.1:n.897G>T
ENST00000374881.3:c.186G>T ENSP00000364015.2:p.Gln62His
ENST00000374882.8:c.198G>T MANE Select ENSP00000364016.4:p.Gln66His
ENST00000650411.1:n.1519G>T
ENST00000650793.1:n.219G>T
ENST00000374881.2:c.186G>T ENSP00000364015.2:p.Gln62His
ENST00000374882.7:c.198G>T ENSP00000364016.3:p.Gln66His
ENST00000395339.7:c.198G>T ENSP00000378748.3:p.Gln66His
ENST00000484003.1:n.424G>T
NM_004159.4:c.186G>T NP_004150.1:p.Gln62His
NM_148919.3:c.198G>T NP_683720.2:p.Gln66His
NM_148919.4:c.198G>T MANE Select NP_683720.2:p.Gln66His
NM_004159.5:c.186G>T NP_004150.1:p.Gln62His