Canonical Allele Identifier: CA137007915

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 870499
• ClinVar RCV Id: RCV001093596 ; RCV002261273
• dbSNP Id: rs757343575
• gnomAD v2: 6-32810471-G-A
• gnomAD v3: 6-32842694-G-A
• gnomAD v4: 6-32842694-G-A
• MyVariant Identifiers: chr6:g.32810471G>A (hg19) ; chr6:g.32842694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842694G>A , CM000668.2:g.32842694G>A	GRCh38
NC_000006.11:g.32810471G>A , CM000668.1:g.32810471G>A	GRCh37
NC_000006.10:g.32918449G>A	NCBI36
NG_009793.3:g.1077C>T
NG_028165.1:g.7242C>T
NG_009793.4:g.1077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.564C>T
ENST00000697612.1:n.1242C>T
ENST00000374881.3:c.373C>T	ENSP00000364015.2:p.Arg125Cys
ENST00000374882.8:c.385C>T MANE Select	ENSP00000364016.4:p.Arg129Cys
ENST00000650411.1:n.1706C>T
ENST00000650793.1:n.564C>T
ENST00000374881.2:c.373C>T	ENSP00000364015.2:p.Arg125Cys
ENST00000374882.7:c.385C>T	ENSP00000364016.3:p.Arg129Cys
ENST00000395339.7:c.313C>T	ENSP00000378748.3:p.Arg105Cys
ENST00000484003.1:n.769C>T
NM_004159.4:c.373C>T	NP_004150.1:p.Arg125Cys
NM_148919.3:c.385C>T	NP_683720.2:p.Arg129Cys
NM_148919.4:c.385C>T MANE Select	NP_683720.2:p.Arg129Cys
NM_004159.5:c.373C>T	NP_004150.1:p.Arg125Cys