Canonical Allele Identifier: CA363589358

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 2109309
• ClinVar RCV Id: RCV003764168
• MyVariant Identifiers: chr6:g.32810740C>G (hg19) ; chr6:g.32842963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842963C>G , CM000668.2:g.32842963C>G	GRCh38
NC_000006.11:g.32810740C>G , CM000668.1:g.32810740C>G	GRCh37
NC_000006.10:g.32918718C>G	NCBI36
NG_009793.3:g.808G>C
NG_028165.1:g.6973G>C
NG_009793.4:g.808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.295G>C
ENST00000697612.1:n.973G>C
ENST00000374881.3:c.262G>C	ENSP00000364015.2:p.Ala88Pro
ENST00000374882.8:c.274G>C MANE Select	ENSP00000364016.4:p.Ala92Pro
ENST00000650411.1:n.1595G>C
ENST00000650793.1:n.295G>C
ENST00000374881.2:c.262G>C	ENSP00000364015.2:p.Ala88Pro
ENST00000374882.7:c.274G>C	ENSP00000364016.3:p.Ala92Pro
ENST00000395339.7:c.274G>C	ENSP00000378748.3:p.Ala92Pro
ENST00000484003.1:n.500G>C
NM_004159.4:c.262G>C	NP_004150.1:p.Ala88Pro
NM_148919.3:c.274G>C	NP_683720.2:p.Ala92Pro
NM_148919.4:c.274G>C MANE Select	NP_683720.2:p.Ala92Pro
NM_004159.5:c.262G>C	NP_004150.1:p.Ala88Pro