Canonical Allele Identifier: CA363589212

Gene: PSMB8

Linked Data

• gnomAD v4: 6-32842742-G-C
• MyVariant Identifiers: chr6:g.32810519G>C (hg19) ; chr6:g.32842742G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842742G>C , CM000668.2:g.32842742G>C	GRCh38
NC_000006.11:g.32810519G>C , CM000668.1:g.32810519G>C	GRCh37
NC_000006.10:g.32918497G>C	NCBI36
NG_009793.3:g.1029C>G
NG_028165.1:g.7194C>G
NG_009793.4:g.1029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.516C>G
ENST00000697612.1:n.1194C>G
ENST00000374881.3:c.325C>G	ENSP00000364015.2:p.Leu109Val
ENST00000374882.8:c.337C>G MANE Select	ENSP00000364016.4:p.Leu113Val
ENST00000650411.1:n.1658C>G
ENST00000650793.1:n.516C>G
ENST00000374881.2:c.325C>G	ENSP00000364015.2:p.Leu109Val
ENST00000374882.7:c.337C>G	ENSP00000364016.3:p.Leu113Val
ENST00000395339.7:c.296-31C>G	ENSP00000378748.3:n.296-31C>G
ENST00000484003.1:n.721C>G
NM_004159.4:c.325C>G	NP_004150.1:p.Leu109Val
NM_148919.3:c.337C>G	NP_683720.2:p.Leu113Val
NM_148919.4:c.337C>G MANE Select	NP_683720.2:p.Leu113Val
NM_004159.5:c.325C>G	NP_004150.1:p.Leu109Val