Canonical Allele Identifier: CA363589483

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 2147267
• ClinVar RCV Id: RCV003596192
• gnomAD v4: 6-32843025-T-C
• MyVariant Identifiers: chr6:g.32810802T>C (hg19) ; chr6:g.32843025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843025T>C , CM000668.2:g.32843025T>C	GRCh38
NC_000006.11:g.32810802T>C , CM000668.1:g.32810802T>C	GRCh37
NC_000006.10:g.32918780T>C	NCBI36
NG_009793.3:g.746A>G
NG_028165.1:g.6911A>G
NG_009793.4:g.746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.233A>G
ENST00000697612.1:n.911A>G
ENST00000374881.3:c.200A>G	ENSP00000364015.2:p.His67Arg
ENST00000374882.8:c.212A>G MANE Select	ENSP00000364016.4:p.His71Arg
ENST00000650411.1:n.1533A>G
ENST00000650793.1:n.233A>G
ENST00000374881.2:c.200A>G	ENSP00000364015.2:p.His67Arg
ENST00000374882.7:c.212A>G	ENSP00000364016.3:p.His71Arg
ENST00000395339.7:c.212A>G	ENSP00000378748.3:p.His71Arg
ENST00000484003.1:n.438A>G
NM_004159.4:c.200A>G	NP_004150.1:p.His67Arg
NM_148919.3:c.212A>G	NP_683720.2:p.His71Arg
NM_148919.4:c.212A>G MANE Select	NP_683720.2:p.His71Arg
NM_004159.5:c.200A>G	NP_004150.1:p.His67Arg