Canonical Allele Identifier: CA3746401

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 835890
• ClinVar RCV Id: RCV001036886
• dbSNP Id: rs369078226
• ExAC: 6:32810470 C / T
• gnomAD v2: 6-32810470-C-T
• gnomAD v3: 6-32842693-C-T
• gnomAD v4: 6-32842693-C-T
• COSMIC: COSM3873029 ; COSM3873030
• MyVariant Identifiers: chr6:g.32810470C>T (hg19) ; chr6:g.32842693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842693C>T , CM000668.2:g.32842693C>T	GRCh38
NC_000006.11:g.32810470C>T , CM000668.1:g.32810470C>T	GRCh37
NC_000006.10:g.32918448C>T	NCBI36
NG_009793.3:g.1078G>A
NG_028165.1:g.7243G>A
NG_009793.4:g.1078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.565G>A
ENST00000697612.1:n.1243G>A
ENST00000374881.3:c.374G>A	ENSP00000364015.2:p.Arg125His
ENST00000374882.8:c.386G>A MANE Select	ENSP00000364016.4:p.Arg129His
ENST00000650411.1:n.1707G>A
ENST00000650793.1:n.565G>A
ENST00000374881.2:c.374G>A	ENSP00000364015.2:p.Arg125His
ENST00000374882.7:c.386G>A	ENSP00000364016.3:p.Arg129His
ENST00000395339.7:c.314G>A	ENSP00000378748.3:p.Arg105His
ENST00000484003.1:n.770G>A
NM_004159.4:c.374G>A	NP_004150.1:p.Arg125His
NM_148919.3:c.386G>A	NP_683720.2:p.Arg129His
NM_148919.4:c.386G>A MANE Select	NP_683720.2:p.Arg129His
NM_004159.5:c.374G>A	NP_004150.1:p.Arg125His