Canonical Allele Identifier: CA137007875
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs181861435
gnomAD v2: 6-32810435-G-A
gnomAD v3: 6-32842658-G-A
gnomAD v4: 6-32842658-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842658G>A , CM000668.2:g.32842658G>A GRCh38
NC_000006.11:g.32810435G>A , CM000668.1:g.32810435G>A GRCh37
NC_000006.10:g.32918413G>A NCBI36
NG_009793.3:g.1113C>T
NG_028165.1:g.7278C>T
NG_009793.4:g.1113C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.600C>T
ENST00000697612.1:n.1264+14C>T
ENST00000374881.3:c.395+14C>T ENSP00000364015.2:n.395+14C>T
ENST00000374882.8:c.407+14C>T MANE Select ENSP00000364016.4:n.407+14C>T
ENST00000650411.1:n.1728+14C>T
ENST00000650793.1:n.600C>T
ENST00000374881.2:c.395+14C>T ENSP00000364015.2:n.395+14C>T
ENST00000374882.7:c.407+14C>T ENSP00000364016.3:n.407+14C>T
ENST00000395339.7:c.335+14C>T ENSP00000378748.3:n.335+14C>T
ENST00000484003.1:n.791+14C>T
NM_004159.4:c.395+14C>T NP_004150.1:n.395+14C>T
NM_148919.3:c.407+14C>T NP_683720.2:n.407+14C>T
NM_148919.4:c.407+14C>T MANE Select NP_683720.2:n.407+14C>T
NM_004159.5:c.395+14C>T NP_004150.1:n.395+14C>T