Canonical Allele Identifier: CA3746265

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 356359
• ClinVar RCV Id: RCV000288786 ; RCV002263650
• dbSNP Id: rs376750959
• ExAC: 6:32808728 C / T
• gnomAD v2: 6-32808728-C-T
• gnomAD v3: 6-32840951-C-T
• gnomAD v4: 6-32840951-C-T
• MyVariant Identifiers: chr6:g.32808728C>T (hg19) ; chr6:g.32840951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32840951C>T , CM000668.2:g.32840951C>T	GRCh38
NC_000006.11:g.32808728C>T , CM000668.1:g.32808728C>T	GRCh37
NC_000006.10:g.32916706C>T	NCBI36
NG_009793.3:g.2820G>A
NG_028165.1:g.8985G>A
NG_009793.4:g.2820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.1824G>A
ENST00000697612.1:n.1696G>A
ENST00000374881.3:c.*8G>A	ENSP00000364015.2:n.*8G>A
ENST00000374882.8:c.*8G>A MANE Select	ENSP00000364016.4:n.*8G>A
ENST00000650411.1:n.2160G>A
ENST00000374881.2:c.*8G>A	ENSP00000364015.2:n.*8G>A
ENST00000374882.7:c.*8G>A	ENSP00000364016.3:n.*8G>A
ENST00000395339.7:c.*8G>A	ENSP00000378748.3:n.*8G>A
ENST00000490613.1:n.601G>A
NM_004159.4:c.*8G>A	NP_004150.1:n.*8G>A
NM_148919.3:c.*8G>A	NP_683720.2:n.*8G>A
NM_148919.4:c.*8G>A MANE Select	NP_683720.2:n.*8G>A
NM_004159.5:c.*8G>A	NP_004150.1:n.*8G>A