Canonical Allele Identifier: CA363589149

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 870500
• ClinVar RCV Id: RCV001093597
• dbSNP Id: rs1769994178
• MyVariant Identifiers: chr6:g.32810489C>T (hg19) ; chr6:g.32842712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842712C>T , CM000668.2:g.32842712C>T	GRCh38
NC_000006.11:g.32810489C>T , CM000668.1:g.32810489C>T	GRCh37
NC_000006.10:g.32918467C>T	NCBI36
NG_009793.3:g.1059G>A
NG_028165.1:g.7224G>A
NG_009793.4:g.1059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.546G>A
ENST00000697612.1:n.1224G>A
ENST00000374881.3:c.355G>A	ENSP00000364015.2:p.Asp119Asn
ENST00000374882.8:c.367G>A MANE Select	ENSP00000364016.4:p.Asp123Asn
ENST00000650411.1:n.1688G>A
ENST00000650793.1:n.546G>A
ENST00000374881.2:c.355G>A	ENSP00000364015.2:p.Asp119Asn
ENST00000374882.7:c.367G>A	ENSP00000364016.3:p.Asp123Asn
ENST00000395339.7:c.296-1G>A	ENSP00000378748.3:n.296-1G>A
ENST00000484003.1:n.751G>A
NM_004159.4:c.355G>A	NP_004150.1:p.Asp119Asn
NM_148919.3:c.367G>A	NP_683720.2:p.Asp123Asn
NM_148919.4:c.367G>A MANE Select	NP_683720.2:p.Asp123Asn
NM_004159.5:c.355G>A	NP_004150.1:p.Asp119Asn