Canonical Allele Identifier: CA3746399
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs146254972
gnomAD v2: 6-32810451-G-A
gnomAD v3: 6-32842674-G-A
gnomAD v4: 6-32842674-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842674G>A , CM000668.2:g.32842674G>A GRCh38
NC_000006.11:g.32810451G>A , CM000668.1:g.32810451G>A GRCh37
NC_000006.10:g.32918429G>A NCBI36
NG_009793.3:g.1097C>T
NG_028165.1:g.7262C>T
NG_009793.4:g.1097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.584C>T
ENST00000697612.1:n.1262C>T
ENST00000374881.3:c.393C>T ENSP00000364015.2:p.Cys131=
ENST00000374882.8:c.405C>T MANE Select ENSP00000364016.4:p.Cys135=
ENST00000650411.1:n.1726C>T
ENST00000650793.1:n.584C>T
ENST00000374881.2:c.393C>T ENSP00000364015.2:p.Cys131=
ENST00000374882.7:c.405C>T ENSP00000364016.3:p.Cys135=
ENST00000395339.7:c.333C>T ENSP00000378748.3:p.Cys111=
ENST00000484003.1:n.789C>T
NM_004159.4:c.393C>T NP_004150.1:p.Cys131=
NM_148919.3:c.405C>T NP_683720.2:p.Cys135=
NM_148919.4:c.405C>T MANE Select NP_683720.2:p.Cys135=
NM_004159.5:c.393C>T NP_004150.1:p.Cys131=