Canonical Allele Identifier: CA3746266
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 356360
ClinVar RCV Id: RCV000346106 RCV000501470 RCV002263651
dbSNP Id: rs371747700
ExAC: 6:32808730 C / G
gnomAD v2: 6-32808730-C-G
gnomAD v3: 6-32840953-C-G
gnomAD v4: 6-32840953-C-G
MyVariant Identifiers: chr6:g.32808730C>G (hg19) chr6:g.32840953C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32840953C>G , CM000668.2:g.32840953C>G GRCh38
NC_000006.11:g.32808730C>G , CM000668.1:g.32808730C>G GRCh37
NC_000006.10:g.32916708C>G NCBI36
NG_009793.3:g.2818G>C
NG_028165.1:g.8983G>C
NG_009793.4:g.2818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.1822G>C
ENST00000697612.1:n.1694G>C
ENST00000374881.3:c.*6G>C ENSP00000364015.2:n.*6G>C
ENST00000374882.8:c.*6G>C MANE Select ENSP00000364016.4:n.*6G>C
ENST00000650411.1:n.2158G>C
ENST00000374881.2:c.*6G>C ENSP00000364015.2:n.*6G>C
ENST00000374882.7:c.*6G>C ENSP00000364016.3:n.*6G>C
ENST00000395339.7:c.*6G>C ENSP00000378748.3:n.*6G>C
ENST00000490613.1:n.599G>C
NM_004159.4:c.*6G>C NP_004150.1:n.*6G>C
NM_148919.3:c.*6G>C NP_683720.2:n.*6G>C
NM_148919.4:c.*6G>C MANE Select NP_683720.2:n.*6G>C
NM_004159.5:c.*6G>C NP_004150.1:n.*6G>C
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