Canonical Allele Identifier: CA137009548
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs978428699
gnomAD v2: 6-32811006-A-G
gnomAD v3: 6-32843229-A-G
gnomAD v4: 6-32843229-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843229A>G , CM000668.2:g.32843229A>G GRCh38
NC_000006.11:g.32811006A>G , CM000668.1:g.32811006A>G GRCh37
NC_000006.10:g.32918984A>G NCBI36
NG_009793.3:g.542T>C
NG_011759.1:g.15743T>C
NG_028165.1:g.6707T>C
NG_009793.4:g.542T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.169-140T>C
ENST00000697612.1:n.707T>C
ENST00000374881.3:c.136-140T>C ENSP00000364015.2:n.136-140T>C
ENST00000374882.8:c.148-140T>C MANE Select ENSP00000364016.4:n.148-140T>C
ENST00000650411.1:n.1329T>C
ENST00000650793.1:n.169-140T>C
ENST00000374881.2:c.136-140T>C ENSP00000364015.2:n.136-140T>C
ENST00000374882.7:c.148-140T>C ENSP00000364016.3:n.148-140T>C
ENST00000395339.7:c.148-140T>C ENSP00000378748.3:n.148-140T>C
ENST00000484003.1:n.374-140T>C
NM_004159.4:c.136-140T>C NP_004150.1:n.136-140T>C
NM_148919.3:c.148-140T>C NP_683720.2:n.148-140T>C
NM_148919.4:c.148-140T>C MANE Select NP_683720.2:n.148-140T>C
NM_004159.5:c.136-140T>C NP_004150.1:n.136-140T>C