Canonical Allele Identifier: CA3746273

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 356361
• ClinVar RCV Id: RCV000503867 ; RCV000402787 ; RCV001531632 ; RCV002263652 ; RCV003595936
• dbSNP Id: rs371969268
• ExAC: 6:32808763 C / T
• gnomAD v2: 6-32808763-C-T
• gnomAD v3: 6-32840986-C-T
• gnomAD v4: 6-32840986-C-T
• MyVariant Identifiers: chr6:g.32808763C>T (hg19) ; chr6:g.32840986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32840986C>T , CM000668.2:g.32840986C>T	GRCh38
NC_000006.11:g.32808763C>T , CM000668.1:g.32808763C>T	GRCh37
NC_000006.10:g.32916741C>T	NCBI36
NG_009793.3:g.2785G>A
NG_028165.1:g.8950G>A
NG_009793.4:g.2785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.1789G>A
ENST00000697612.1:n.1661G>A
ENST00000374881.3:c.792G>A	ENSP00000364015.2:p.Leu264=
ENST00000374882.8:c.804G>A MANE Select	ENSP00000364016.4:p.Leu268=
ENST00000650411.1:n.2125G>A
ENST00000374881.2:c.792G>A	ENSP00000364015.2:p.Leu264=
ENST00000374882.7:c.804G>A	ENSP00000364016.3:p.Leu268=
ENST00000395339.7:c.732G>A	ENSP00000378748.3:p.Leu244=
ENST00000490613.1:n.566G>A
NM_004159.4:c.792G>A	NP_004150.1:p.Leu264=
NM_148919.3:c.804G>A	NP_683720.2:p.Leu268=
NM_148919.4:c.804G>A MANE Select	NP_683720.2:p.Leu268=
NM_004159.5:c.792G>A	NP_004150.1:p.Leu264=