Canonical Allele Identifier: CA3746411

Gene: PSMB8

Linked Data

• dbSNP Id: rs144321102
• ExAC: 6:32810549 C / T
• gnomAD v2: 6-32810549-C-T
• gnomAD v3: 6-32842772-C-T
• gnomAD v4: 6-32842772-C-T
• MyVariant Identifiers: chr6:g.32810549C>T (hg19) ; chr6:g.32842772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842772C>T , CM000668.2:g.32842772C>T	GRCh38
NC_000006.11:g.32810549C>T , CM000668.1:g.32810549C>T	GRCh37
NC_000006.10:g.32918527C>T	NCBI36
NG_009793.3:g.999G>A
NG_028165.1:g.7164G>A
NG_009793.4:g.999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.486G>A
ENST00000697612.1:n.1164G>A
ENST00000374881.3:c.295G>A	ENSP00000364015.2:p.Val99Met
ENST00000374882.8:c.307G>A MANE Select	ENSP00000364016.4:p.Val103Met
ENST00000650411.1:n.1628G>A
ENST00000650793.1:n.486G>A
ENST00000374881.2:c.295G>A	ENSP00000364015.2:p.Val99Met
ENST00000374882.7:c.307G>A	ENSP00000364016.3:p.Val103Met
ENST00000395339.7:c.296-61G>A	ENSP00000378748.3:n.296-61G>A
ENST00000484003.1:n.691G>A
NM_004159.4:c.295G>A	NP_004150.1:p.Val99Met
NM_148919.3:c.307G>A	NP_683720.2:p.Val103Met
NM_148919.4:c.307G>A MANE Select	NP_683720.2:p.Val103Met
NM_004159.5:c.295G>A	NP_004150.1:p.Val99Met