Canonical Allele Identifier: CA363589638
Community Standard Title: NM_148919.4(PSMB8):c.145C>T (p.Gln49Ter)
Gene: PSMB8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843852G>A , CM000668.2:g.32843852G>A GRCh38
NC_000006.11:g.32811629G>A , CM000668.1:g.32811629G>A GRCh37
NC_000006.10:g.32919607G>A NCBI36
NG_011759.1:g.15120C>T
NG_028165.1:g.6084C>T

Transcript Alleles

HGVS Amino-acid Change
NM_148919.4:c.145C>T MANE Select NP_683720.2:p.Gln49Ter
ENST00000374882.8:c.145C>T MANE Select ENSP00000364016.4:p.Gln49Ter
NM_004159.4:c.135+427C>T NP_004150.1:n.135+427C>T
NM_004159.5:c.135+427C>T NP_004150.1:n.135+427C>T
NM_148919.3:c.145C>T NP_683720.2:p.Gln49Ter
ENST00000374881.2:c.135+427C>T ENSP00000364015.2:n.135+427C>T
ENST00000374881.3:c.135+427C>T ENSP00000364015.2:n.135+427C>T
ENST00000374882.7:c.145C>T ENSP00000364016.3:p.Gln49Ter
ENST00000395339.7:c.145C>T ENSP00000378748.3:p.Gln49Ter
ENST00000484003.1:n.373+427C>T
ENST00000650411.1:n.706C>T
ENST00000650793.1:n.166C>T
ENST00000650793.2:n.166C>T
ENST00000697612.1:n.84C>T