Canonical Allele Identifier: CA449832612
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1385681265
gnomAD v2: 6-32810732-A-T
gnomAD v4: 6-32842955-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842955A>T , CM000668.2:g.32842955A>T GRCh38
NC_000006.11:g.32810732A>T , CM000668.1:g.32810732A>T GRCh37
NC_000006.10:g.32918710A>T NCBI36
NG_009793.3:g.816T>A
NG_028165.1:g.6981T>A
NG_009793.4:g.816T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.303T>A
ENST00000697612.1:n.981T>A
ENST00000374881.3:c.270T>A ENSP00000364015.2:p.Ala90=
ENST00000374882.8:c.282T>A MANE Select ENSP00000364016.4:p.Ala94=
ENST00000650411.1:n.1603T>A
ENST00000650793.1:n.303T>A
ENST00000374881.2:c.270T>A ENSP00000364015.2:p.Ala90=
ENST00000374882.7:c.282T>A ENSP00000364016.3:p.Ala94=
ENST00000395339.7:c.282T>A ENSP00000378748.3:p.Ala94=
ENST00000484003.1:n.508T>A
NM_004159.4:c.270T>A NP_004150.1:p.Ala90=
NM_148919.3:c.282T>A NP_683720.2:p.Ala94=
NM_148919.4:c.282T>A MANE Select NP_683720.2:p.Ala94=
NM_004159.5:c.270T>A NP_004150.1:p.Ala90=