Canonical Allele Identifier: CA137007946
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs113178719
gnomAD v4: 6-32842768-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842768T>C , CM000668.2:g.32842768T>C GRCh38
NC_000006.11:g.32810545T>C , CM000668.1:g.32810545T>C GRCh37
NC_000006.10:g.32918523T>C NCBI36
NG_009793.3:g.1003A>G
NG_028165.1:g.7168A>G
NG_009793.4:g.1003A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.490A>G
ENST00000697612.1:n.1168A>G
ENST00000374881.3:c.299A>G ENSP00000364015.2:p.Asn100Ser
ENST00000374882.8:c.311A>G MANE Select ENSP00000364016.4:p.Asn104Ser
ENST00000650411.1:n.1632A>G
ENST00000650793.1:n.490A>G
ENST00000374881.2:c.299A>G ENSP00000364015.2:p.Asn100Ser
ENST00000374882.7:c.311A>G ENSP00000364016.3:p.Asn104Ser
ENST00000395339.7:c.296-57A>G ENSP00000378748.3:n.296-57A>G
ENST00000484003.1:n.695A>G
NM_004159.4:c.299A>G NP_004150.1:p.Asn100Ser
NM_148919.3:c.311A>G NP_683720.2:p.Asn104Ser
NM_148919.4:c.311A>G MANE Select NP_683720.2:p.Asn104Ser
NM_004159.5:c.299A>G NP_004150.1:p.Asn100Ser