Canonical Allele Identifier: CA363589074
Gene: PSMB8 HGNC NCBI

Linked Data

gnomAD v4: 6-32842679-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842679C>T , CM000668.2:g.32842679C>T GRCh38
NC_000006.11:g.32810456C>T , CM000668.1:g.32810456C>T GRCh37
NC_000006.10:g.32918434C>T NCBI36
NG_009793.3:g.1092G>A
NG_028165.1:g.7257G>A
NG_009793.4:g.1092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.579G>A
ENST00000697612.1:n.1257G>A
ENST00000374881.3:c.388G>A ENSP00000364015.2:p.Glu130Lys
ENST00000374882.8:c.400G>A MANE Select ENSP00000364016.4:p.Glu134Lys
ENST00000650411.1:n.1721G>A
ENST00000650793.1:n.579G>A
ENST00000374881.2:c.388G>A ENSP00000364015.2:p.Glu130Lys
ENST00000374882.7:c.400G>A ENSP00000364016.3:p.Glu134Lys
ENST00000395339.7:c.328G>A ENSP00000378748.3:p.Glu110Lys
ENST00000484003.1:n.784G>A
NM_004159.4:c.388G>A NP_004150.1:p.Glu130Lys
NM_148919.3:c.400G>A NP_683720.2:p.Glu134Lys
NM_148919.4:c.400G>A MANE Select NP_683720.2:p.Glu134Lys
NM_004159.5:c.388G>A NP_004150.1:p.Glu130Lys