Canonical Allele Identifier: CA363589061
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1428323014
gnomAD v2: 6-32810452-C-A
gnomAD v3: 6-32842675-C-A
gnomAD v4: 6-32842675-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842675C>A , CM000668.2:g.32842675C>A GRCh38
NC_000006.11:g.32810452C>A , CM000668.1:g.32810452C>A GRCh37
NC_000006.10:g.32918430C>A NCBI36
NG_009793.3:g.1096G>T
NG_028165.1:g.7261G>T
NG_009793.4:g.1096G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.583G>T
ENST00000697612.1:n.1261G>T
ENST00000374881.3:c.392G>T ENSP00000364015.2:p.Cys131Phe
ENST00000374882.8:c.404G>T MANE Select ENSP00000364016.4:p.Cys135Phe
ENST00000650411.1:n.1725G>T
ENST00000650793.1:n.583G>T
ENST00000374881.2:c.392G>T ENSP00000364015.2:p.Cys131Phe
ENST00000374882.7:c.404G>T ENSP00000364016.3:p.Cys135Phe
ENST00000395339.7:c.332G>T ENSP00000378748.3:p.Cys111Phe
ENST00000484003.1:n.788G>T
NM_004159.4:c.392G>T NP_004150.1:p.Cys131Phe
NM_148919.3:c.404G>T NP_683720.2:p.Cys135Phe
NM_148919.4:c.404G>T MANE Select NP_683720.2:p.Cys135Phe
NM_004159.5:c.392G>T NP_004150.1:p.Cys131Phe