Canonical Allele Identifier: CA363589581
Gene: PSMB8 HGNC NCBI

Linked Data

gnomAD v4: 6-32843072-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843072C>A , CM000668.2:g.32843072C>A GRCh38
NC_000006.11:g.32810849C>A , CM000668.1:g.32810849C>A GRCh37
NC_000006.10:g.32918827C>A NCBI36
NG_009793.3:g.699G>T
NG_028165.1:g.6864G>T
NG_009793.4:g.699G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.186G>T
ENST00000697612.1:n.864G>T
ENST00000374881.3:c.153G>T ENSP00000364015.2:p.Gln51His
ENST00000374882.8:c.165G>T MANE Select ENSP00000364016.4:p.Gln55His
ENST00000650411.1:n.1486G>T
ENST00000650793.1:n.186G>T
ENST00000374881.2:c.153G>T ENSP00000364015.2:p.Gln51His
ENST00000374882.7:c.165G>T ENSP00000364016.3:p.Gln55His
ENST00000395339.7:c.165G>T ENSP00000378748.3:p.Gln55His
ENST00000484003.1:n.391G>T
NM_004159.4:c.153G>T NP_004150.1:p.Gln51His
NM_148919.3:c.165G>T NP_683720.2:p.Gln55His
NM_148919.4:c.165G>T MANE Select NP_683720.2:p.Gln55His
NM_004159.5:c.153G>T NP_004150.1:p.Gln51His