Canonical Allele Identifier: CA363589138
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs767636318
gnomAD v3: 6-32842708-C-T
gnomAD v4: 6-32842708-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842708C>T , CM000668.2:g.32842708C>T GRCh38
NC_000006.11:g.32810485C>T , CM000668.1:g.32810485C>T GRCh37
NC_000006.10:g.32918463C>T NCBI36
NG_009793.3:g.1063G>A
NG_028165.1:g.7228G>A
NG_009793.4:g.1063G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.550G>A
ENST00000697612.1:n.1228G>A
ENST00000374881.3:c.359G>A ENSP00000364015.2:p.Cys120Tyr
ENST00000374882.8:c.371G>A MANE Select ENSP00000364016.4:p.Cys124Tyr
ENST00000650411.1:n.1692G>A
ENST00000650793.1:n.550G>A
ENST00000374881.2:c.359G>A ENSP00000364015.2:p.Cys120Tyr
ENST00000374882.7:c.371G>A ENSP00000364016.3:p.Cys124Tyr
ENST00000395339.7:c.299G>A ENSP00000378748.3:p.Cys100Tyr
ENST00000484003.1:n.755G>A
NM_004159.4:c.359G>A NP_004150.1:p.Cys120Tyr
NM_148919.3:c.371G>A NP_683720.2:p.Cys124Tyr
NM_148919.4:c.371G>A MANE Select NP_683720.2:p.Cys124Tyr
NM_004159.5:c.359G>A NP_004150.1:p.Cys120Tyr