Canonical Allele Identifier: CA3746467

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 907465
• ClinVar RCV Id: RCV001157333 ; RCV002261294
• dbSNP Id: rs757858465
• ExAC: 6:32810834 G / A
• gnomAD v2: 6-32810834-G-A
• gnomAD v3: 6-32843057-G-A
• gnomAD v4: 6-32843057-G-A
• MyVariant Identifiers: chr6:g.32810834G>A (hg19) ; chr6:g.32843057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843057G>A , CM000668.2:g.32843057G>A	GRCh38
NC_000006.11:g.32810834G>A , CM000668.1:g.32810834G>A	GRCh37
NC_000006.10:g.32918812G>A	NCBI36
NG_009793.3:g.714C>T
NG_028165.1:g.6879C>T
NG_009793.4:g.714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650793.2:n.201C>T
ENST00000697612.1:n.879C>T
ENST00000374881.3:c.168C>T	ENSP00000364015.2:p.Asp56=
ENST00000374882.8:c.180C>T MANE Select	ENSP00000364016.4:p.Asp60=
ENST00000650411.1:n.1501C>T
ENST00000650793.1:n.201C>T
ENST00000374881.2:c.168C>T	ENSP00000364015.2:p.Asp56=
ENST00000374882.7:c.180C>T	ENSP00000364016.3:p.Asp60=
ENST00000395339.7:c.180C>T	ENSP00000378748.3:p.Asp60=
ENST00000484003.1:n.406C>T
NM_004159.4:c.168C>T	NP_004150.1:p.Asp56=
NM_148919.3:c.180C>T	NP_683720.2:p.Asp60=
NM_148919.4:c.180C>T MANE Select	NP_683720.2:p.Asp60=
NM_004159.5:c.168C>T	NP_004150.1:p.Asp56=