Canonical Allele Identifier: CA363589250
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1177518651
gnomAD v2: 6-32810535-A-C
gnomAD v4: 6-32842758-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842758A>C , CM000668.2:g.32842758A>C GRCh38
NC_000006.11:g.32810535A>C , CM000668.1:g.32810535A>C GRCh37
NC_000006.10:g.32918513A>C NCBI36
NG_009793.3:g.1013T>G
NG_028165.1:g.7178T>G
NG_009793.4:g.1013T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.500T>G
ENST00000697612.1:n.1178T>G
ENST00000374881.3:c.309T>G ENSP00000364015.2:p.Ile103Met
ENST00000374882.8:c.321T>G MANE Select ENSP00000364016.4:p.Ile107Met
ENST00000650411.1:n.1642T>G
ENST00000650793.1:n.500T>G
ENST00000374881.2:c.309T>G ENSP00000364015.2:p.Ile103Met
ENST00000374882.7:c.321T>G ENSP00000364016.3:p.Ile107Met
ENST00000395339.7:c.296-47T>G ENSP00000378748.3:n.296-47T>G
ENST00000484003.1:n.705T>G
NM_004159.4:c.309T>G NP_004150.1:p.Ile103Met
NM_148919.3:c.321T>G NP_683720.2:p.Ile107Met
NM_148919.4:c.321T>G MANE Select NP_683720.2:p.Ile107Met
NM_004159.5:c.309T>G NP_004150.1:p.Ile103Met