Canonical Allele Identifier: CA137008147

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 940811
• ClinVar RCV Id: RCV002261306 ; RCV003763853
• dbSNP Id: rs1007524117
• gnomAD v2: 6-32810833-C-T
• gnomAD v3: 6-32843056-C-T
• gnomAD v4: 6-32843056-C-T
• COSMIC: COSM4531739 ; COSM4531740
• MyVariant Identifiers: chr6:g.32810833C>T (hg19) ; chr6:g.32843056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843056C>T , CM000668.2:g.32843056C>T	GRCh38
NC_000006.11:g.32810833C>T , CM000668.1:g.32810833C>T	GRCh37
NC_000006.10:g.32918811C>T	NCBI36
NG_009793.3:g.715G>A
NG_028165.1:g.6880G>A
NG_009793.4:g.715G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650793.2:n.202G>A
ENST00000697612.1:n.880G>A
ENST00000374881.3:c.169G>A	ENSP00000364015.2:p.Gly57Arg
ENST00000374882.8:c.181G>A MANE Select	ENSP00000364016.4:p.Gly61Arg
ENST00000650411.1:n.1502G>A
ENST00000650793.1:n.202G>A
ENST00000374881.2:c.169G>A	ENSP00000364015.2:p.Gly57Arg
ENST00000374882.7:c.181G>A	ENSP00000364016.3:p.Gly61Arg
ENST00000395339.7:c.181G>A	ENSP00000378748.3:p.Gly61Arg
ENST00000484003.1:n.407G>A
NM_004159.4:c.169G>A	NP_004150.1:p.Gly57Arg
NM_148919.3:c.181G>A	NP_683720.2:p.Gly61Arg
NM_148919.4:c.181G>A MANE Select	NP_683720.2:p.Gly61Arg
NM_004159.5:c.169G>A	NP_004150.1:p.Gly57Arg