Canonical Allele Identifier: CA137008122
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs933373451
gnomAD v2: 6-32810805-G-T
gnomAD v4: 6-32843028-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843028G>T , CM000668.2:g.32843028G>T GRCh38
NC_000006.11:g.32810805G>T , CM000668.1:g.32810805G>T GRCh37
NC_000006.10:g.32918783G>T NCBI36
NG_009793.3:g.743C>A
NG_028165.1:g.6908C>A
NG_009793.4:g.743C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.230C>A
ENST00000697612.1:n.908C>A
ENST00000374881.3:c.197C>A ENSP00000364015.2:p.Ala66Asp
ENST00000374882.8:c.209C>A MANE Select ENSP00000364016.4:p.Ala70Asp
ENST00000650411.1:n.1530C>A
ENST00000650793.1:n.230C>A
ENST00000374881.2:c.197C>A ENSP00000364015.2:p.Ala66Asp
ENST00000374882.7:c.209C>A ENSP00000364016.3:p.Ala70Asp
ENST00000395339.7:c.209C>A ENSP00000378748.3:p.Ala70Asp
ENST00000484003.1:n.435C>A
NM_004159.4:c.197C>A NP_004150.1:p.Ala66Asp
NM_148919.3:c.209C>A NP_683720.2:p.Ala70Asp
NM_148919.4:c.209C>A MANE Select NP_683720.2:p.Ala70Asp
NM_004159.5:c.197C>A NP_004150.1:p.Ala66Asp