Canonical Allele Identifier: CA3746465

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 1499765
• ClinVar RCV Id: RCV003773309
• dbSNP Id: rs140150936
• ExAC: 6:32810823 T / A
• gnomAD v3: 6-32843046-T-A
• gnomAD v4: 6-32843046-T-A
• MyVariant Identifiers: chr6:g.32810823T>A (hg19) ; chr6:g.32843046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843046T>A , CM000668.2:g.32843046T>A	GRCh38
NC_000006.11:g.32810823T>A , CM000668.1:g.32810823T>A	GRCh37
NC_000006.10:g.32918801T>A	NCBI36
NG_009793.3:g.725A>T
NG_028165.1:g.6890A>T
NG_009793.4:g.725A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650793.2:n.212A>T
ENST00000697612.1:n.890A>T
ENST00000374881.3:c.179A>T	ENSP00000364015.2:p.Asn60Ile
ENST00000374882.8:c.191A>T MANE Select	ENSP00000364016.4:p.Asn64Ile
ENST00000650411.1:n.1512A>T
ENST00000650793.1:n.212A>T
ENST00000374881.2:c.179A>T	ENSP00000364015.2:p.Asn60Ile
ENST00000374882.7:c.191A>T	ENSP00000364016.3:p.Asn64Ile
ENST00000395339.7:c.191A>T	ENSP00000378748.3:p.Asn64Ile
ENST00000484003.1:n.417A>T
NM_004159.4:c.179A>T	NP_004150.1:p.Asn60Ile
NM_148919.3:c.191A>T	NP_683720.2:p.Asn64Ile
NM_148919.4:c.191A>T MANE Select	NP_683720.2:p.Asn64Ile
NM_004159.5:c.179A>T	NP_004150.1:p.Asn60Ile