Canonical Allele Identifier: CA3746314
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 356363
ClinVar RCV Id: RCV000337402 RCV002263654 RCV003761935
dbSNP Id: rs547653681
ExAC: 6:32809364 C / T
gnomAD v2: 6-32809364-C-T
gnomAD v3: 6-32841587-C-T
gnomAD v4: 6-32841587-C-T
COSMIC: COSM3348959 COSM3348960
MyVariant Identifiers: chr6:g.32809364C>T (hg19) chr6:g.32841587C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32841587C>T , CM000668.2:g.32841587C>T GRCh38
NC_000006.11:g.32809364C>T , CM000668.1:g.32809364C>T GRCh37
NC_000006.10:g.32917342C>T NCBI36
NG_009793.3:g.2184G>A
NG_028165.1:g.8349G>A
NG_009793.4:g.2184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.1671G>A
ENST00000697612.1:n.1543G>A
ENST00000374881.3:c.674G>A ENSP00000364015.2:p.Arg225His
ENST00000374882.8:c.686G>A MANE Select ENSP00000364016.4:p.Arg229His
ENST00000650411.1:n.2007G>A
ENST00000374881.2:c.674G>A ENSP00000364015.2:p.Arg225His
ENST00000374882.7:c.686G>A ENSP00000364016.3:p.Arg229His
ENST00000395339.7:c.614G>A ENSP00000378748.3:p.Arg205His
ENST00000484003.1:n.1070G>A
ENST00000490613.1:n.448G>A
NM_004159.4:c.674G>A NP_004150.1:p.Arg225His
NM_148919.3:c.686G>A NP_683720.2:p.Arg229His
NM_148919.4:c.686G>A MANE Select NP_683720.2:p.Arg229His
NM_004159.5:c.674G>A NP_004150.1:p.Arg225His
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