Canonical Allele Identifier: CA566399189
Gene: PSMB8 HGNC NCBI

Linked Data

dbSNP Id: rs1201864557
gnomAD v2: 6-32810401-A-G
gnomAD v4: 6-32842624-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842624A>G , CM000668.2:g.32842624A>G GRCh38
NC_000006.11:g.32810401A>G , CM000668.1:g.32810401A>G GRCh37
NC_000006.10:g.32918379A>G NCBI36
NG_009793.3:g.1147T>C
NG_028165.1:g.7312T>C
NG_009793.4:g.1147T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.634T>C
ENST00000697612.1:n.1264+48T>C
ENST00000374881.3:c.395+48T>C ENSP00000364015.2:n.395+48T>C
ENST00000374882.8:c.407+48T>C MANE Select ENSP00000364016.4:n.407+48T>C
ENST00000650411.1:n.1728+48T>C
ENST00000650793.1:n.634T>C
ENST00000374881.2:c.395+48T>C ENSP00000364015.2:n.395+48T>C
ENST00000374882.7:c.407+48T>C ENSP00000364016.3:n.407+48T>C
ENST00000395339.7:c.335+48T>C ENSP00000378748.3:n.335+48T>C
ENST00000484003.1:n.791+48T>C
NM_004159.4:c.395+48T>C NP_004150.1:n.395+48T>C
NM_148919.3:c.407+48T>C NP_683720.2:n.407+48T>C
NM_148919.4:c.407+48T>C MANE Select NP_683720.2:n.407+48T>C
NM_004159.5:c.395+48T>C NP_004150.1:n.395+48T>C