Canonical Allele Identifier: CA363589141
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1389920445
gnomAD v3: 6-32842709-A-C
gnomAD v4: 6-32842709-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842709A>C , CM000668.2:g.32842709A>C GRCh38
NC_000006.11:g.32810486A>C , CM000668.1:g.32810486A>C GRCh37
NC_000006.10:g.32918464A>C NCBI36
NG_009793.3:g.1062T>G
NG_028165.1:g.7227T>G
NG_009793.4:g.1062T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.549T>G
ENST00000697612.1:n.1227T>G
ENST00000374881.3:c.358T>G ENSP00000364015.2:p.Cys120Gly
ENST00000374882.8:c.370T>G MANE Select ENSP00000364016.4:p.Cys124Gly
ENST00000650411.1:n.1691T>G
ENST00000650793.1:n.549T>G
ENST00000374881.2:c.358T>G ENSP00000364015.2:p.Cys120Gly
ENST00000374882.7:c.370T>G ENSP00000364016.3:p.Cys124Gly
ENST00000395339.7:c.298T>G ENSP00000378748.3:p.Cys100Gly
ENST00000484003.1:n.754T>G
NM_004159.4:c.358T>G NP_004150.1:p.Cys120Gly
NM_148919.3:c.370T>G NP_683720.2:p.Cys124Gly
NM_148919.4:c.370T>G MANE Select NP_683720.2:p.Cys124Gly
NM_004159.5:c.358T>G NP_004150.1:p.Cys120Gly