Canonical Allele Identifier: CA363589161
Gene: PSMB8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842718C>A , CM000668.2:g.32842718C>A GRCh38
NC_000006.11:g.32810495C>A , CM000668.1:g.32810495C>A GRCh37
NC_000006.10:g.32918473C>A NCBI36
NG_009793.3:g.1053G>T
NG_028165.1:g.7218G>T
NG_009793.4:g.1053G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.540G>T
ENST00000697612.1:n.1218G>T
ENST00000374881.3:c.349G>T ENSP00000364015.2:p.Ala117Ser
ENST00000374882.8:c.361G>T MANE Select ENSP00000364016.4:p.Ala121Ser
ENST00000650411.1:n.1682G>T
ENST00000650793.1:n.540G>T
ENST00000374881.2:c.349G>T ENSP00000364015.2:p.Ala117Ser
ENST00000374882.7:c.361G>T ENSP00000364016.3:p.Ala121Ser
ENST00000395339.7:c.296-7G>T ENSP00000378748.3:n.296-7G>T
ENST00000484003.1:n.745G>T
NM_004159.4:c.349G>T NP_004150.1:p.Ala117Ser
NM_148919.3:c.361G>T NP_683720.2:p.Ala121Ser
NM_148919.4:c.361G>T MANE Select NP_683720.2:p.Ala121Ser
NM_004159.5:c.349G>T NP_004150.1:p.Ala117Ser