Canonical Allele Identifier: CA2573140342

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 1562582
• ClinVar RCV Id: RCV003773718
• dbSNP Id: rs2127378189
• gnomAD v4: 6-32842787-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842787G>A , CM000668.2:g.32842787G>A	GRCh38
NC_000006.11:g.32810564G>A , CM000668.1:g.32810564G>A	GRCh37
NC_000006.10:g.32918542G>A	NCBI36
NG_009793.3:g.984C>T
NG_028165.1:g.7149C>T
NG_009793.4:g.984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.471C>T
ENST00000697612.1:n.1149C>T
ENST00000374881.3:c.284-4C>T	ENSP00000364015.2:n.284-4C>T
ENST00000374882.8:c.296-4C>T MANE Select	ENSP00000364016.4:n.296-4C>T
ENST00000650411.1:n.1617-4C>T
ENST00000650793.1:n.471C>T
ENST00000374881.2:c.284-4C>T	ENSP00000364015.2:n.284-4C>T
ENST00000374882.7:c.296-4C>T	ENSP00000364016.3:n.296-4C>T
ENST00000395339.7:c.296-76C>T	ENSP00000378748.3:n.296-76C>T
ENST00000484003.1:n.676C>T
NM_004159.4:c.284-4C>T	NP_004150.1:n.284-4C>T
NM_148919.3:c.296-4C>T	NP_683720.2:n.296-4C>T
NM_148919.4:c.296-4C>T MANE Select	NP_683720.2:n.296-4C>T
NM_004159.5:c.284-4C>T	NP_004150.1:n.284-4C>T