Canonical Allele Identifier: CA3746394
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs771742484
gnomAD v2: 6-32810410-C-T
gnomAD v4: 6-32842633-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842633C>T , CM000668.2:g.32842633C>T GRCh38
NC_000006.11:g.32810410C>T , CM000668.1:g.32810410C>T GRCh37
NC_000006.10:g.32918388C>T NCBI36
NG_009793.3:g.1138G>A
NG_028165.1:g.7303G>A
NG_009793.4:g.1138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.625G>A
ENST00000697612.1:n.1264+39G>A
ENST00000374881.3:c.395+39G>A ENSP00000364015.2:n.395+39G>A
ENST00000374882.8:c.407+39G>A MANE Select ENSP00000364016.4:n.407+39G>A
ENST00000650411.1:n.1728+39G>A
ENST00000650793.1:n.625G>A
ENST00000374881.2:c.395+39G>A ENSP00000364015.2:n.395+39G>A
ENST00000374882.7:c.407+39G>A ENSP00000364016.3:n.407+39G>A
ENST00000395339.7:c.335+39G>A ENSP00000378748.3:n.335+39G>A
ENST00000484003.1:n.791+39G>A
NM_004159.4:c.395+39G>A NP_004150.1:n.395+39G>A
NM_148919.3:c.407+39G>A NP_683720.2:n.407+39G>A
NM_148919.4:c.407+39G>A MANE Select NP_683720.2:n.407+39G>A
NM_004159.5:c.395+39G>A NP_004150.1:n.395+39G>A