Canonical Allele Identifier: CA10626482
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 356367
ClinVar RCV Id: RCV000266887
dbSNP Id: rs886061310
gnomAD v4: 6-32843070-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843070G>T , CM000668.2:g.32843070G>T GRCh38
NC_000006.11:g.32810847G>T , CM000668.1:g.32810847G>T GRCh37
NC_000006.10:g.32918825G>T NCBI36
NG_009793.3:g.701C>A
NG_028165.1:g.6866C>A
NG_009793.4:g.701C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.188C>A
ENST00000697612.1:n.866C>A
ENST00000374881.3:c.155C>A ENSP00000364015.2:p.Ser52Tyr
ENST00000374882.8:c.167C>A MANE Select ENSP00000364016.4:p.Ser56Tyr
ENST00000650411.1:n.1488C>A
ENST00000650793.1:n.188C>A
ENST00000374881.2:c.155C>A ENSP00000364015.2:p.Ser52Tyr
ENST00000374882.7:c.167C>A ENSP00000364016.3:p.Ser56Tyr
ENST00000395339.7:c.167C>A ENSP00000378748.3:p.Ser56Tyr
ENST00000484003.1:n.393C>A
NM_004159.4:c.155C>A NP_004150.1:p.Ser52Tyr
NM_148919.3:c.167C>A NP_683720.2:p.Ser56Tyr
NM_148919.4:c.167C>A MANE Select NP_683720.2:p.Ser56Tyr
NM_004159.5:c.155C>A NP_004150.1:p.Ser52Tyr