Canonical Allele Identifier: CA363589209

Gene: PSMB8

Linked Data

• gnomAD v4: 6-32842741-A-C
• MyVariant Identifiers: chr6:g.32810518A>C (hg19) ; chr6:g.32842741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842741A>C , CM000668.2:g.32842741A>C	GRCh38
NC_000006.11:g.32810518A>C , CM000668.1:g.32810518A>C	GRCh37
NC_000006.10:g.32918496A>C	NCBI36
NG_009793.3:g.1030T>G
NG_028165.1:g.7195T>G
NG_009793.4:g.1030T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.517T>G
ENST00000697612.1:n.1195T>G
ENST00000374881.3:c.326T>G	ENSP00000364015.2:p.Leu109Arg
ENST00000374882.8:c.338T>G MANE Select	ENSP00000364016.4:p.Leu113Arg
ENST00000650411.1:n.1659T>G
ENST00000650793.1:n.517T>G
ENST00000374881.2:c.326T>G	ENSP00000364015.2:p.Leu109Arg
ENST00000374882.7:c.338T>G	ENSP00000364016.3:p.Leu113Arg
ENST00000395339.7:c.296-30T>G	ENSP00000378748.3:n.296-30T>G
ENST00000484003.1:n.722T>G
NM_004159.4:c.326T>G	NP_004150.1:p.Leu109Arg
NM_148919.3:c.338T>G	NP_683720.2:p.Leu113Arg
NM_148919.4:c.338T>G MANE Select	NP_683720.2:p.Leu113Arg
NM_004159.5:c.326T>G	NP_004150.1:p.Leu109Arg