Canonical Allele Identifier: CA3746364

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 465422
• ClinVar RCV Id: RCV000543389 ; RCV001821549 ; RCV001702798 ; RCV003762782 ; RCV002263774
• dbSNP Id: rs11540143
• ExAC: 6:32809947 G / A
• gnomAD v2: 6-32809947-G-A
• gnomAD v3: 6-32842170-G-A
• gnomAD v4: 6-32842170-G-A
• MyVariant Identifiers: chr6:g.32809947G>A (hg19) ; chr6:g.32842170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842170G>A , CM000668.2:g.32842170G>A	GRCh38
NC_000006.11:g.32809947G>A , CM000668.1:g.32809947G>A	GRCh37
NC_000006.10:g.32917925G>A	NCBI36
NG_009793.3:g.1601C>T
NG_028165.1:g.7766C>T
NG_009793.4:g.1601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.1088C>T
ENST00000697612.1:n.1358C>T
ENST00000374881.3:c.489C>T	ENSP00000364015.2:p.Leu163=
ENST00000374882.8:c.501C>T MANE Select	ENSP00000364016.4:p.Leu167=
ENST00000650411.1:n.1822C>T
ENST00000650793.1:n.1088C>T
ENST00000374881.2:c.489C>T	ENSP00000364015.2:p.Leu163=
ENST00000374882.7:c.501C>T	ENSP00000364016.3:p.Leu167=
ENST00000395339.7:c.429C>T	ENSP00000378748.3:p.Leu143=
ENST00000484003.1:n.885C>T
NM_004159.4:c.489C>T	NP_004150.1:p.Leu163=
NM_148919.3:c.501C>T	NP_683720.2:p.Leu167=
NM_148919.4:c.501C>T MANE Select	NP_683720.2:p.Leu167=
NM_004159.5:c.489C>T	NP_004150.1:p.Leu163=