Canonical Allele Identifier: CA137007924

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 761028
• ClinVar RCV Id: RCV001450284 ; RCV003978110
• dbSNP Id: rs547664445
• gnomAD v2: 6-32810472-C-T
• gnomAD v3: 6-32842695-C-T
• gnomAD v4: 6-32842695-C-T
• MyVariant Identifiers: chr6:g.32810472C>T (hg19) ; chr6:g.32842695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842695C>T , CM000668.2:g.32842695C>T	GRCh38
NC_000006.11:g.32810472C>T , CM000668.1:g.32810472C>T	GRCh37
NC_000006.10:g.32918450C>T	NCBI36
NG_009793.3:g.1076G>A
NG_028165.1:g.7241G>A
NG_009793.4:g.1076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.563G>A
ENST00000697612.1:n.1241G>A
ENST00000374881.3:c.372G>A	ENSP00000364015.2:p.Glu124=
ENST00000374882.8:c.384G>A MANE Select	ENSP00000364016.4:p.Glu128=
ENST00000650411.1:n.1705G>A
ENST00000650793.1:n.563G>A
ENST00000374881.2:c.372G>A	ENSP00000364015.2:p.Glu124=
ENST00000374882.7:c.384G>A	ENSP00000364016.3:p.Glu128=
ENST00000395339.7:c.312G>A	ENSP00000378748.3:p.Glu104=
ENST00000484003.1:n.768G>A
NM_004159.4:c.372G>A	NP_004150.1:p.Glu124=
NM_148919.3:c.384G>A	NP_683720.2:p.Glu128=
NM_148919.4:c.384G>A MANE Select	NP_683720.2:p.Glu128=
NM_004159.5:c.372G>A	NP_004150.1:p.Glu124=