Canonical Allele Identifier: CA566399192
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1375301638
gnomAD v2: 6-32810426-G-A
gnomAD v4: 6-32842649-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842649G>A , CM000668.2:g.32842649G>A GRCh38
NC_000006.11:g.32810426G>A , CM000668.1:g.32810426G>A GRCh37
NC_000006.10:g.32918404G>A NCBI36
NG_009793.3:g.1122C>T
NG_028165.1:g.7287C>T
NG_009793.4:g.1122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.609C>T
ENST00000697612.1:n.1264+23C>T
ENST00000374881.3:c.395+23C>T ENSP00000364015.2:n.395+23C>T
ENST00000374882.8:c.407+23C>T MANE Select ENSP00000364016.4:n.407+23C>T
ENST00000650411.1:n.1728+23C>T
ENST00000650793.1:n.609C>T
ENST00000374881.2:c.395+23C>T ENSP00000364015.2:n.395+23C>T
ENST00000374882.7:c.407+23C>T ENSP00000364016.3:n.407+23C>T
ENST00000395339.7:c.335+23C>T ENSP00000378748.3:n.335+23C>T
ENST00000484003.1:n.791+23C>T
NM_004159.4:c.395+23C>T NP_004150.1:n.395+23C>T
NM_148919.3:c.407+23C>T NP_683720.2:n.407+23C>T
NM_148919.4:c.407+23C>T MANE Select NP_683720.2:n.407+23C>T
NM_004159.5:c.395+23C>T NP_004150.1:n.395+23C>T