Canonical Allele Identifier: CA3746306

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 533961
• ClinVar RCV Id: RCV000641296 ; RCV002263877 ; RCV003762849 ; RCV003905733
• dbSNP Id: rs78909544
• ExAC: 6:32809318 G / A
• gnomAD v2: 6-32809318-G-A
• gnomAD v3: 6-32841541-G-A
• gnomAD v4: 6-32841541-G-A
• MyVariant Identifiers: chr6:g.32809318G>A (hg19) ; chr6:g.32841541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32841541G>A , CM000668.2:g.32841541G>A	GRCh38
NC_000006.11:g.32809318G>A , CM000668.1:g.32809318G>A	GRCh37
NC_000006.10:g.32917296G>A	NCBI36
NG_009793.3:g.2230C>T
NG_028165.1:g.8395C>T
NG_009793.4:g.2230C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.1717C>T
ENST00000697612.1:n.1589C>T
ENST00000374881.3:c.720C>T	ENSP00000364015.2:p.Gly240=
ENST00000374882.8:c.732C>T MANE Select	ENSP00000364016.4:p.Gly244=
ENST00000650411.1:n.2053C>T
ENST00000374881.2:c.720C>T	ENSP00000364015.2:p.Gly240=
ENST00000374882.7:c.732C>T	ENSP00000364016.3:p.Gly244=
ENST00000395339.7:c.660C>T	ENSP00000378748.3:p.Gly220=
ENST00000484003.1:n.1116C>T
ENST00000490613.1:n.494C>T
NM_004159.4:c.720C>T	NP_004150.1:p.Gly240=
NM_148919.3:c.732C>T	NP_683720.2:p.Gly244=
NM_148919.4:c.732C>T MANE Select	NP_683720.2:p.Gly244=
NM_004159.5:c.720C>T	NP_004150.1:p.Gly240=