Canonical Allele Identifier: CA3746400

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 29862
• ClinVar RCV Id: RCV000022741 ; RCV003595858
• dbSNP Id: rs146254972
• ExAC: 6:32810451 G / T
• gnomAD v2: 6-32810451-G-T
• gnomAD v3: 6-32842674-G-T
• gnomAD v4: 6-32842674-G-T
• MyVariant Identifiers: chr6:g.32810451G>T (hg19) ; chr6:g.32842674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842674G>T , CM000668.2:g.32842674G>T	GRCh38
NC_000006.11:g.32810451G>T , CM000668.1:g.32810451G>T	GRCh37
NC_000006.10:g.32918429G>T	NCBI36
NG_009793.3:g.1097C>A
NG_028165.1:g.7262C>A
NG_009793.4:g.1097C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.584C>A
ENST00000697612.1:n.1262C>A
ENST00000374881.3:c.393C>A	ENSP00000364015.2:p.Cys131Ter
ENST00000374882.8:c.405C>A MANE Select	ENSP00000364016.4:p.Cys135Ter
ENST00000650411.1:n.1726C>A
ENST00000650793.1:n.584C>A
ENST00000374881.2:c.393C>A	ENSP00000364015.2:p.Cys131Ter
ENST00000374882.7:c.405C>A	ENSP00000364016.3:p.Cys135Ter
ENST00000395339.7:c.333C>A	ENSP00000378748.3:p.Cys111Ter
ENST00000484003.1:n.789C>A
NM_004159.4:c.393C>A	NP_004150.1:p.Cys131Ter
NM_148919.3:c.405C>A	NP_683720.2:p.Cys135Ter
NM_148919.4:c.405C>A MANE Select	NP_683720.2:p.Cys135Ter
NM_004159.5:c.393C>A	NP_004150.1:p.Cys131Ter