Canonical Allele Identifier: CA3746406

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 3220392
• ClinVar RCV Id: RCV004513302
• dbSNP Id: rs780356087
• ExAC: 6:32810498 A / G
• gnomAD v2: 6-32810498-A-G
• gnomAD v4: 6-32842721-A-G
• MyVariant Identifiers: chr6:g.32810498A>G (hg19) ; chr6:g.32842721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842721A>G , CM000668.2:g.32842721A>G	GRCh38
NC_000006.11:g.32810498A>G , CM000668.1:g.32810498A>G	GRCh37
NC_000006.10:g.32918476A>G	NCBI36
NG_009793.3:g.1050T>C
NG_028165.1:g.7215T>C
NG_009793.4:g.1050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.537T>C
ENST00000697612.1:n.1215T>C
ENST00000374881.3:c.346T>C	ENSP00000364015.2:p.Cys116Arg
ENST00000374882.8:c.358T>C MANE Select	ENSP00000364016.4:p.Cys120Arg
ENST00000650411.1:n.1679T>C
ENST00000650793.1:n.537T>C
ENST00000374881.2:c.346T>C	ENSP00000364015.2:p.Cys116Arg
ENST00000374882.7:c.358T>C	ENSP00000364016.3:p.Cys120Arg
ENST00000395339.7:c.296-10T>C	ENSP00000378748.3:n.296-10T>C
ENST00000484003.1:n.742T>C
NM_004159.4:c.346T>C	NP_004150.1:p.Cys116Arg
NM_148919.3:c.358T>C	NP_683720.2:p.Cys120Arg
NM_148919.4:c.358T>C MANE Select	NP_683720.2:p.Cys120Arg
NM_004159.5:c.346T>C	NP_004150.1:p.Cys116Arg