Canonical Allele Identifier: CA363589087
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1381441698
gnomAD v2: 6-32810462-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842685C>T , CM000668.2:g.32842685C>T GRCh38
NC_000006.11:g.32810462C>T , CM000668.1:g.32810462C>T GRCh37
NC_000006.10:g.32918440C>T NCBI36
NG_009793.3:g.1086G>A
NG_028165.1:g.7251G>A
NG_009793.4:g.1086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.573G>A
ENST00000697612.1:n.1251G>A
ENST00000374881.3:c.382G>A ENSP00000364015.2:p.Ala128Thr
ENST00000374882.8:c.394G>A MANE Select ENSP00000364016.4:p.Ala132Thr
ENST00000650411.1:n.1715G>A
ENST00000650793.1:n.573G>A
ENST00000374881.2:c.382G>A ENSP00000364015.2:p.Ala128Thr
ENST00000374882.7:c.394G>A ENSP00000364016.3:p.Ala132Thr
ENST00000395339.7:c.322G>A ENSP00000378748.3:p.Ala108Thr
ENST00000484003.1:n.778G>A
NM_004159.4:c.382G>A NP_004150.1:p.Ala128Thr
NM_148919.3:c.394G>A NP_683720.2:p.Ala132Thr
NM_148919.4:c.394G>A MANE Select NP_683720.2:p.Ala132Thr
NM_004159.5:c.382G>A NP_004150.1:p.Ala128Thr