Canonical Allele Identifier: CA363589570
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1221043396
gnomAD v2: 6-32810842-C-G
gnomAD v4: 6-32843065-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843065C>G , CM000668.2:g.32843065C>G GRCh38
NC_000006.11:g.32810842C>G , CM000668.1:g.32810842C>G GRCh37
NC_000006.10:g.32918820C>G NCBI36
NG_009793.3:g.706G>C
NG_028165.1:g.6871G>C
NG_009793.4:g.706G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.193G>C
ENST00000697612.1:n.871G>C
ENST00000374881.3:c.160G>C ENSP00000364015.2:p.Gly54Arg
ENST00000374882.8:c.172G>C MANE Select ENSP00000364016.4:p.Gly58Arg
ENST00000650411.1:n.1493G>C
ENST00000650793.1:n.193G>C
ENST00000374881.2:c.160G>C ENSP00000364015.2:p.Gly54Arg
ENST00000374882.7:c.172G>C ENSP00000364016.3:p.Gly58Arg
ENST00000395339.7:c.172G>C ENSP00000378748.3:p.Gly58Arg
ENST00000484003.1:n.398G>C
NM_004159.4:c.160G>C NP_004150.1:p.Gly54Arg
NM_148919.3:c.172G>C NP_683720.2:p.Gly58Arg
NM_148919.4:c.172G>C MANE Select NP_683720.2:p.Gly58Arg
NM_004159.5:c.160G>C NP_004150.1:p.Gly54Arg