Canonical Allele Identifier: CA363589547
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1770030700
gnomAD v3: 6-32843053-C-G
gnomAD v4: 6-32843053-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843053C>G , CM000668.2:g.32843053C>G GRCh38
NC_000006.11:g.32810830C>G , CM000668.1:g.32810830C>G GRCh37
NC_000006.10:g.32918808C>G NCBI36
NG_009793.3:g.718G>C
NG_028165.1:g.6883G>C
NG_009793.4:g.718G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650793.2:n.205G>C
ENST00000697612.1:n.883G>C
ENST00000374881.3:c.172G>C ENSP00000364015.2:p.Glu58Gln
ENST00000374882.8:c.184G>C MANE Select ENSP00000364016.4:p.Glu62Gln
ENST00000650411.1:n.1505G>C
ENST00000650793.1:n.205G>C
ENST00000374881.2:c.172G>C ENSP00000364015.2:p.Glu58Gln
ENST00000374882.7:c.184G>C ENSP00000364016.3:p.Glu62Gln
ENST00000395339.7:c.184G>C ENSP00000378748.3:p.Glu62Gln
ENST00000484003.1:n.410G>C
NM_004159.4:c.172G>C NP_004150.1:p.Glu58Gln
NM_148919.3:c.184G>C NP_683720.2:p.Glu62Gln
NM_148919.4:c.184G>C MANE Select NP_683720.2:p.Glu62Gln
NM_004159.5:c.172G>C NP_004150.1:p.Glu58Gln