Canonical Allele Identifier: CA823986185
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1277053849
gnomAD v3: 6-32842656-G-A
gnomAD v4: 6-32842656-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842656G>A , CM000668.2:g.32842656G>A GRCh38
NC_000006.11:g.32810433G>A , CM000668.1:g.32810433G>A GRCh37
NC_000006.10:g.32918411G>A NCBI36
NG_009793.3:g.1115C>T
NG_028165.1:g.7280C>T
NG_009793.4:g.1115C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.602C>T
ENST00000697612.1:n.1264+16C>T
ENST00000374881.3:c.395+16C>T ENSP00000364015.2:n.395+16C>T
ENST00000374882.8:c.407+16C>T MANE Select ENSP00000364016.4:n.407+16C>T
ENST00000650411.1:n.1728+16C>T
ENST00000650793.1:n.602C>T
ENST00000374881.2:c.395+16C>T ENSP00000364015.2:n.395+16C>T
ENST00000374882.7:c.407+16C>T ENSP00000364016.3:n.407+16C>T
ENST00000395339.7:c.335+16C>T ENSP00000378748.3:n.335+16C>T
ENST00000484003.1:n.791+16C>T
NM_004159.4:c.395+16C>T NP_004150.1:n.395+16C>T
NM_148919.3:c.407+16C>T NP_683720.2:n.407+16C>T
NM_148919.4:c.407+16C>T MANE Select NP_683720.2:n.407+16C>T
NM_004159.5:c.395+16C>T NP_004150.1:n.395+16C>T