Canonical Allele Identifier: CA363589062
Gene: PSMB8 HGNC NCBI

Linked Data

gnomAD v4: 6-32842675-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.583G>C
ENST00000697612.1:n.1261G>C
ENST00000374881.3:c.392G>C ENSP00000364015.2:p.Cys131Ser
ENST00000374882.8:c.404G>C MANE Select ENSP00000364016.4:p.Cys135Ser
ENST00000650411.1:n.1725G>C
ENST00000650793.1:n.583G>C
ENST00000374881.2:c.392G>C ENSP00000364015.2:p.Cys131Ser
ENST00000374882.7:c.404G>C ENSP00000364016.3:p.Cys135Ser
ENST00000395339.7:c.332G>C ENSP00000378748.3:p.Cys111Ser
ENST00000484003.1:n.788G>C
NM_004159.4:c.392G>C NP_004150.1:p.Cys131Ser
NM_148919.3:c.404G>C NP_683720.2:p.Cys135Ser
NM_148919.4:c.404G>C MANE Select NP_683720.2:p.Cys135Ser
NM_004159.5:c.392G>C NP_004150.1:p.Cys131Ser