Canonical Allele Identifier: CA363589302
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1770003032
gnomAD v3: 6-32842783-C-T
gnomAD v4: 6-32842783-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842783C>T , CM000668.2:g.32842783C>T GRCh38
NC_000006.11:g.32810560C>T , CM000668.1:g.32810560C>T GRCh37
NC_000006.10:g.32918538C>T NCBI36
NG_009793.3:g.988G>A
NG_028165.1:g.7153G>A
NG_009793.4:g.988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.475G>A
ENST00000697612.1:n.1153G>A
ENST00000374881.3:c.284G>A ENSP00000364015.2:p.Ser95Asn
ENST00000374882.8:c.296G>A MANE Select ENSP00000364016.4:p.Ser99Asn
ENST00000650411.1:n.1617G>A
ENST00000650793.1:n.475G>A
ENST00000374881.2:c.284G>A ENSP00000364015.2:p.Ser95Asn
ENST00000374882.7:c.296G>A ENSP00000364016.3:p.Ser99Asn
ENST00000395339.7:c.296-72G>A ENSP00000378748.3:n.296-72G>A
ENST00000484003.1:n.680G>A
NM_004159.4:c.284G>A NP_004150.1:p.Ser95Asn
NM_148919.3:c.296G>A NP_683720.2:p.Ser99Asn
NM_148919.4:c.296G>A MANE Select NP_683720.2:p.Ser99Asn
NM_004159.5:c.284G>A NP_004150.1:p.Ser95Asn