Canonical Allele Identifier: CA566697892
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1270234208
gnomAD v2: 6-32810619-C-T
gnomAD v4: 6-32842842-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842842C>T , CM000668.2:g.32842842C>T GRCh38
NC_000006.11:g.32810619C>T , CM000668.1:g.32810619C>T GRCh37
NC_000006.10:g.32918597C>T NCBI36
NG_009793.3:g.929G>A
NG_028165.1:g.7094G>A
NG_009793.4:g.929G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.416G>A
ENST00000697612.1:n.1094G>A
ENST00000374881.3:c.284-59G>A ENSP00000364015.2:n.284-59G>A
ENST00000374882.8:c.296-59G>A MANE Select ENSP00000364016.4:n.296-59G>A
ENST00000650411.1:n.1617-59G>A
ENST00000650793.1:n.416G>A
ENST00000374881.2:c.284-59G>A ENSP00000364015.2:n.284-59G>A
ENST00000374882.7:c.296-59G>A ENSP00000364016.3:n.296-59G>A
ENST00000395339.7:c.295+100G>A ENSP00000378748.3:n.295+100G>A
ENST00000484003.1:n.621G>A
NM_004159.4:c.284-59G>A NP_004150.1:n.284-59G>A
NM_148919.3:c.296-59G>A NP_683720.2:n.296-59G>A
NM_148919.4:c.296-59G>A MANE Select NP_683720.2:n.296-59G>A
NM_004159.5:c.284-59G>A NP_004150.1:n.284-59G>A