Canonical Allele Identifier: CA363589124
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1166323758
gnomAD v3: 6-32842703-A-C
gnomAD v4: 6-32842703-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842703A>C , CM000668.2:g.32842703A>C GRCh38
NC_000006.11:g.32810480A>C , CM000668.1:g.32810480A>C GRCh37
NC_000006.10:g.32918458A>C NCBI36
NG_009793.3:g.1068T>G
NG_028165.1:g.7233T>G
NG_009793.4:g.1068T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.555T>G
ENST00000697612.1:n.1233T>G
ENST00000374881.3:c.364T>G ENSP00000364015.2:p.Tyr122Asp
ENST00000374882.8:c.376T>G MANE Select ENSP00000364016.4:p.Tyr126Asp
ENST00000650411.1:n.1697T>G
ENST00000650793.1:n.555T>G
ENST00000374881.2:c.364T>G ENSP00000364015.2:p.Tyr122Asp
ENST00000374882.7:c.376T>G ENSP00000364016.3:p.Tyr126Asp
ENST00000395339.7:c.304T>G ENSP00000378748.3:p.Tyr102Asp
ENST00000484003.1:n.760T>G
NM_004159.4:c.364T>G NP_004150.1:p.Tyr122Asp
NM_148919.3:c.376T>G NP_683720.2:p.Tyr126Asp
NM_148919.4:c.376T>G MANE Select NP_683720.2:p.Tyr126Asp
NM_004159.5:c.364T>G NP_004150.1:p.Tyr122Asp