Canonical Allele Identifier: CA2580074438
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087441
ClinVar RCV Id: RCV003764109

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842798A>C , CM000668.2:g.32842798A>C GRCh38
NC_000006.11:g.32810575A>C , CM000668.1:g.32810575A>C GRCh37
NC_000006.10:g.32918553A>C NCBI36
NG_009793.3:g.973T>G
NG_028165.1:g.7138T>G
NG_009793.4:g.973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.460T>G
ENST00000697612.1:n.1138T>G
ENST00000374881.3:c.284-15T>G ENSP00000364015.2:n.284-15T>G
ENST00000374882.8:c.296-15T>G MANE Select ENSP00000364016.4:n.296-15T>G
ENST00000650411.1:n.1617-15T>G
ENST00000650793.1:n.460T>G
ENST00000374881.2:c.284-15T>G ENSP00000364015.2:n.284-15T>G
ENST00000374882.7:c.296-15T>G ENSP00000364016.3:n.296-15T>G
ENST00000395339.7:c.296-87T>G ENSP00000378748.3:n.296-87T>G
ENST00000484003.1:n.665T>G
NM_004159.4:c.284-15T>G NP_004150.1:n.284-15T>G
NM_148919.3:c.296-15T>G NP_683720.2:n.296-15T>G
NM_148919.4:c.296-15T>G MANE Select NP_683720.2:n.296-15T>G
NM_004159.5:c.284-15T>G NP_004150.1:n.284-15T>G