Canonical Allele Identifier: CA363589166
Gene: PSMB8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842720C>A , CM000668.2:g.32842720C>A GRCh38
NC_000006.11:g.32810497C>A , CM000668.1:g.32810497C>A GRCh37
NC_000006.10:g.32918475C>A NCBI36
NG_009793.3:g.1051G>T
NG_028165.1:g.7216G>T
NG_009793.4:g.1051G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.538G>T
ENST00000697612.1:n.1216G>T
ENST00000374881.3:c.347G>T ENSP00000364015.2:p.Cys116Phe
ENST00000374882.8:c.359G>T MANE Select ENSP00000364016.4:p.Cys120Phe
ENST00000650411.1:n.1680G>T
ENST00000650793.1:n.538G>T
ENST00000374881.2:c.347G>T ENSP00000364015.2:p.Cys116Phe
ENST00000374882.7:c.359G>T ENSP00000364016.3:p.Cys120Phe
ENST00000395339.7:c.296-9G>T ENSP00000378748.3:n.296-9G>T
ENST00000484003.1:n.743G>T
NM_004159.4:c.347G>T NP_004150.1:p.Cys116Phe
NM_148919.3:c.359G>T NP_683720.2:p.Cys120Phe
NM_148919.4:c.359G>T MANE Select NP_683720.2:p.Cys120Phe
NM_004159.5:c.347G>T NP_004150.1:p.Cys116Phe