Canonical Allele Identifier: CA363589317

Gene: PSMB8

Linked Data

• dbSNP Id: rs1381795628
• gnomAD v2: 6-32810719-T-G
• gnomAD v4: 6-32842942-T-G
• MyVariant Identifiers: chr6:g.32810719T>G (hg19) ; chr6:g.32842942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842942T>G , CM000668.2:g.32842942T>G	GRCh38
NC_000006.11:g.32810719T>G , CM000668.1:g.32810719T>G	GRCh37
NC_000006.10:g.32918697T>G	NCBI36
NG_009793.3:g.829A>C
NG_028165.1:g.6994A>C
NG_009793.4:g.829A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.316A>C
ENST00000697612.1:n.994A>C
ENST00000374881.3:c.283A>C	ENSP00000364015.2:p.Ser95Arg
ENST00000374882.8:c.295A>C MANE Select	ENSP00000364016.4:p.Ser99Arg
ENST00000650411.1:n.1616A>C
ENST00000650793.1:n.316A>C
ENST00000374881.2:c.283A>C	ENSP00000364015.2:p.Ser95Arg
ENST00000374882.7:c.295A>C	ENSP00000364016.3:p.Ser99Arg
ENST00000395339.7:c.295A>C	ENSP00000378748.3:p.Asn99His
ENST00000484003.1:n.521A>C
NM_004159.4:c.283A>C	NP_004150.1:p.Ser95Arg
NM_148919.3:c.295A>C	NP_683720.2:p.Ser99Arg
NM_148919.4:c.295A>C MANE Select	NP_683720.2:p.Ser99Arg
NM_004159.5:c.283A>C	NP_004150.1:p.Ser95Arg