Canonical Allele Identifier: CA3746464
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 356366
dbSNP Id: rs79482999
gnomAD v2: 6-32810822-G-A
gnomAD v3: 6-32843045-G-A
gnomAD v4: 6-32843045-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843045G>A , CM000668.2:g.32843045G>A GRCh38
NC_000006.11:g.32810822G>A , CM000668.1:g.32810822G>A GRCh37
NC_000006.10:g.32918800G>A NCBI36
NG_009793.3:g.726C>T
NG_028165.1:g.6891C>T
NG_009793.4:g.726C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650793.2:n.213C>T
ENST00000697612.1:n.891C>T
ENST00000374881.3:c.180C>T ENSP00000364015.2:p.Asn60=
ENST00000374882.8:c.192C>T MANE Select ENSP00000364016.4:p.Asn64=
ENST00000650411.1:n.1513C>T
ENST00000650793.1:n.213C>T
ENST00000374881.2:c.180C>T ENSP00000364015.2:p.Asn60=
ENST00000374882.7:c.192C>T ENSP00000364016.3:p.Asn64=
ENST00000395339.7:c.192C>T ENSP00000378748.3:p.Asn64=
ENST00000484003.1:n.418C>T
NM_004159.4:c.180C>T NP_004150.1:p.Asn60=
NM_148919.3:c.192C>T NP_683720.2:p.Asn64=
NM_148919.4:c.192C>T MANE Select NP_683720.2:p.Asn64=
NM_004159.5:c.180C>T NP_004150.1:p.Asn60=