Canonical Allele Identifier: CA363589227
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 953261
ClinVar RCV Id: RCV001225524
dbSNP Id: rs1769997640

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842748G>T , CM000668.2:g.32842748G>T GRCh38
NC_000006.11:g.32810525G>T , CM000668.1:g.32810525G>T GRCh37
NC_000006.10:g.32918503G>T NCBI36
NG_009793.3:g.1023C>A
NG_028165.1:g.7188C>A
NG_009793.4:g.1023C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.510C>A
ENST00000697612.1:n.1188C>A
ENST00000374881.3:c.319C>A ENSP00000364015.2:p.Pro107Thr
ENST00000374882.8:c.331C>A MANE Select ENSP00000364016.4:p.Pro111Thr
ENST00000650411.1:n.1652C>A
ENST00000650793.1:n.510C>A
ENST00000374881.2:c.319C>A ENSP00000364015.2:p.Pro107Thr
ENST00000374882.7:c.331C>A ENSP00000364016.3:p.Pro111Thr
ENST00000395339.7:c.296-37C>A ENSP00000378748.3:n.296-37C>A
ENST00000484003.1:n.715C>A
NM_004159.4:c.319C>A NP_004150.1:p.Pro107Thr
NM_148919.3:c.331C>A NP_683720.2:p.Pro111Thr
NM_148919.4:c.331C>A MANE Select NP_683720.2:p.Pro111Thr
NM_004159.5:c.319C>A NP_004150.1:p.Pro107Thr