Canonical Allele Identifier: CA363589164

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 1491549
• ClinVar RCV Id: RCV003773239
• dbSNP Id: rs2127378014
• gnomAD v4: 6-32842719-A-C
• MyVariant Identifiers: chr6:g.32810496A>C (hg19) ; chr6:g.32842719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842719A>C , CM000668.2:g.32842719A>C	GRCh38
NC_000006.11:g.32810496A>C , CM000668.1:g.32810496A>C	GRCh37
NC_000006.10:g.32918474A>C	NCBI36
NG_009793.3:g.1052T>G
NG_028165.1:g.7217T>G
NG_009793.4:g.1052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.539T>G
ENST00000697612.1:n.1217T>G
ENST00000374881.3:c.348T>G	ENSP00000364015.2:p.Cys116Trp
ENST00000374882.8:c.360T>G MANE Select	ENSP00000364016.4:p.Cys120Trp
ENST00000650411.1:n.1681T>G
ENST00000650793.1:n.539T>G
ENST00000374881.2:c.348T>G	ENSP00000364015.2:p.Cys116Trp
ENST00000374882.7:c.360T>G	ENSP00000364016.3:p.Cys120Trp
ENST00000395339.7:c.296-8T>G	ENSP00000378748.3:n.296-8T>G
ENST00000484003.1:n.744T>G
NM_004159.4:c.348T>G	NP_004150.1:p.Cys116Trp
NM_148919.3:c.360T>G	NP_683720.2:p.Cys120Trp
NM_148919.4:c.360T>G MANE Select	NP_683720.2:p.Cys120Trp
NM_004159.5:c.348T>G	NP_004150.1:p.Cys116Trp