Canonical Allele Identifier: CA137007955
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs907882564
gnomAD v2: 6-32810551-C-T
gnomAD v3: 6-32842774-C-T
gnomAD v4: 6-32842774-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842774C>T , CM000668.2:g.32842774C>T GRCh38
NC_000006.11:g.32810551C>T , CM000668.1:g.32810551C>T GRCh37
NC_000006.10:g.32918529C>T NCBI36
NG_009793.3:g.997G>A
NG_028165.1:g.7162G>A
NG_009793.4:g.997G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.484G>A
ENST00000697612.1:n.1162G>A
ENST00000374881.3:c.293G>A ENSP00000364015.2:p.Arg98Gln
ENST00000374882.8:c.305G>A MANE Select ENSP00000364016.4:p.Arg102Gln
ENST00000650411.1:n.1626G>A
ENST00000650793.1:n.484G>A
ENST00000374881.2:c.293G>A ENSP00000364015.2:p.Arg98Gln
ENST00000374882.7:c.305G>A ENSP00000364016.3:p.Arg102Gln
ENST00000395339.7:c.296-63G>A ENSP00000378748.3:n.296-63G>A
ENST00000484003.1:n.689G>A
NM_004159.4:c.293G>A NP_004150.1:p.Arg98Gln
NM_148919.3:c.305G>A NP_683720.2:p.Arg102Gln
NM_148919.4:c.305G>A MANE Select NP_683720.2:p.Arg102Gln
NM_004159.5:c.293G>A NP_004150.1:p.Arg98Gln