Canonical Allele Identifier: CA363589330
Gene: PSMB8 HGNC NCBI

Linked Data

gnomAD v4: 6-32842948-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842948A>G , CM000668.2:g.32842948A>G GRCh38
NC_000006.11:g.32810725A>G , CM000668.1:g.32810725A>G GRCh37
NC_000006.10:g.32918703A>G NCBI36
NG_009793.3:g.823T>C
NG_028165.1:g.6988T>C
NG_009793.4:g.823T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.310T>C
ENST00000697612.1:n.988T>C
ENST00000374881.3:c.277T>C ENSP00000364015.2:p.Tyr93His
ENST00000374882.8:c.289T>C MANE Select ENSP00000364016.4:p.Tyr97His
ENST00000650411.1:n.1610T>C
ENST00000650793.1:n.310T>C
ENST00000374881.2:c.277T>C ENSP00000364015.2:p.Tyr93His
ENST00000374882.7:c.289T>C ENSP00000364016.3:p.Tyr97His
ENST00000395339.7:c.289T>C ENSP00000378748.3:p.Tyr97His
ENST00000484003.1:n.515T>C
NM_004159.4:c.277T>C NP_004150.1:p.Tyr93His
NM_148919.3:c.289T>C NP_683720.2:p.Tyr97His
NM_148919.4:c.289T>C MANE Select NP_683720.2:p.Tyr97His
NM_004159.5:c.277T>C NP_004150.1:p.Tyr93His