Canonical Allele Identifier: CA363589181

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 3220941
• ClinVar RCV Id: RCV004515818
• dbSNP Id: rs1359687163
• gnomAD v2: 6-32810504-A-G
• gnomAD v3: 6-32842727-A-G
• gnomAD v4: 6-32842727-A-G
• MyVariant Identifiers: chr6:g.32810504A>G (hg19) ; chr6:g.32842727A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842727A>G , CM000668.2:g.32842727A>G	GRCh38
NC_000006.11:g.32810504A>G , CM000668.1:g.32810504A>G	GRCh37
NC_000006.10:g.32918482A>G	NCBI36
NG_009793.3:g.1044T>C
NG_028165.1:g.7209T>C
NG_009793.4:g.1044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.531T>C
ENST00000697612.1:n.1209T>C
ENST00000374881.3:c.340T>C	ENSP00000364015.2:p.Ser114Pro
ENST00000374882.8:c.352T>C MANE Select	ENSP00000364016.4:p.Ser118Pro
ENST00000650411.1:n.1673T>C
ENST00000650793.1:n.531T>C
ENST00000374881.2:c.340T>C	ENSP00000364015.2:p.Ser114Pro
ENST00000374882.7:c.352T>C	ENSP00000364016.3:p.Ser118Pro
ENST00000395339.7:c.296-16T>C	ENSP00000378748.3:n.296-16T>C
ENST00000484003.1:n.736T>C
NM_004159.4:c.340T>C	NP_004150.1:p.Ser114Pro
NM_148919.3:c.352T>C	NP_683720.2:p.Ser118Pro
NM_148919.4:c.352T>C MANE Select	NP_683720.2:p.Ser118Pro
NM_004159.5:c.340T>C	NP_004150.1:p.Ser114Pro