Canonical Allele Identifier: CA3746269

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 465423
• ClinVar RCV Id: RCV000554127
• dbSNP Id: rs368551668
• ExAC: 6:32808752 C / T
• gnomAD v2: 6-32808752-C-T
• gnomAD v3: 6-32840975-C-T
• gnomAD v4: 6-32840975-C-T
• MyVariant Identifiers: chr6:g.32808752C>T (hg19) ; chr6:g.32840975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32840975C>T , CM000668.2:g.32840975C>T	GRCh38
NC_000006.11:g.32808752C>T , CM000668.1:g.32808752C>T	GRCh37
NC_000006.10:g.32916730C>T	NCBI36
NG_009793.3:g.2796G>A
NG_028165.1:g.8961G>A
NG_009793.4:g.2796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.1800G>A
ENST00000697612.1:n.1672G>A
ENST00000374881.3:c.803G>A	ENSP00000364015.2:p.Arg268Gln
ENST00000374882.8:c.815G>A MANE Select	ENSP00000364016.4:p.Arg272Gln
ENST00000650411.1:n.2136G>A
ENST00000374881.2:c.803G>A	ENSP00000364015.2:p.Arg268Gln
ENST00000374882.7:c.815G>A	ENSP00000364016.3:p.Arg272Gln
ENST00000395339.7:c.743G>A	ENSP00000378748.3:p.Arg248Gln
ENST00000490613.1:n.577G>A
NM_004159.4:c.803G>A	NP_004150.1:p.Arg268Gln
NM_148919.3:c.815G>A	NP_683720.2:p.Arg272Gln
NM_148919.4:c.815G>A MANE Select	NP_683720.2:p.Arg272Gln
NM_004159.5:c.803G>A	NP_004150.1:p.Arg268Gln