Canonical Allele Identifier: CA3746473
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs754703601
gnomAD v2: 6-32810882-A-G
gnomAD v3: 6-32843105-A-G
gnomAD v4: 6-32843105-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843105A>G , CM000668.2:g.32843105A>G GRCh38
NC_000006.11:g.32810882A>G , CM000668.1:g.32810882A>G GRCh37
NC_000006.10:g.32918860A>G NCBI36
NG_009793.3:g.666T>C
NG_028165.1:g.6831T>C
NG_009793.4:g.666T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.169-16T>C
ENST00000697612.1:n.831T>C
ENST00000374881.3:c.136-16T>C ENSP00000364015.2:n.136-16T>C
ENST00000374882.8:c.148-16T>C MANE Select ENSP00000364016.4:n.148-16T>C
ENST00000650411.1:n.1453T>C
ENST00000650793.1:n.169-16T>C
ENST00000374881.2:c.136-16T>C ENSP00000364015.2:n.136-16T>C
ENST00000374882.7:c.148-16T>C ENSP00000364016.3:n.148-16T>C
ENST00000395339.7:c.148-16T>C ENSP00000378748.3:n.148-16T>C
ENST00000484003.1:n.374-16T>C
NM_004159.4:c.136-16T>C NP_004150.1:n.136-16T>C
NM_148919.3:c.148-16T>C NP_683720.2:n.148-16T>C
NM_148919.4:c.148-16T>C MANE Select NP_683720.2:n.148-16T>C
NM_004159.5:c.136-16T>C NP_004150.1:n.136-16T>C