Canonical Allele Identifier: CA363589189
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1254688879
gnomAD v3: 6-32842730-T-C
gnomAD v4: 6-32842730-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842730T>C , CM000668.2:g.32842730T>C GRCh38
NC_000006.11:g.32810507T>C , CM000668.1:g.32810507T>C GRCh37
NC_000006.10:g.32918485T>C NCBI36
NG_009793.3:g.1041A>G
NG_028165.1:g.7206A>G
NG_009793.4:g.1041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.528A>G
ENST00000697612.1:n.1206A>G
ENST00000374881.3:c.337A>G ENSP00000364015.2:p.Met113Val
ENST00000374882.8:c.349A>G MANE Select ENSP00000364016.4:p.Met117Val
ENST00000650411.1:n.1670A>G
ENST00000650793.1:n.528A>G
ENST00000374881.2:c.337A>G ENSP00000364015.2:p.Met113Val
ENST00000374882.7:c.349A>G ENSP00000364016.3:p.Met117Val
ENST00000395339.7:c.296-19A>G ENSP00000378748.3:n.296-19A>G
ENST00000484003.1:n.733A>G
NM_004159.4:c.337A>G NP_004150.1:p.Met113Val
NM_148919.3:c.349A>G NP_683720.2:p.Met117Val
NM_148919.4:c.349A>G MANE Select NP_683720.2:p.Met117Val
NM_004159.5:c.337A>G NP_004150.1:p.Met113Val