Canonical Allele Identifier: CA3746466

Gene: PSMB8

Linked Data

• dbSNP Id: rs752051688
• ExAC: 6:32810825 C / A
• gnomAD v2: 6-32810825-C-A
• gnomAD v4: 6-32843048-C-A
• MyVariant Identifiers: chr6:g.32810825C>A (hg19) ; chr6:g.32843048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843048C>A , CM000668.2:g.32843048C>A	GRCh38
NC_000006.11:g.32810825C>A , CM000668.1:g.32810825C>A	GRCh37
NC_000006.10:g.32918803C>A	NCBI36
NG_009793.3:g.723G>T
NG_028165.1:g.6888G>T
NG_009793.4:g.723G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650793.2:n.210G>T
ENST00000697612.1:n.888G>T
ENST00000374881.3:c.177G>T	ENSP00000364015.2:p.Arg59Ser
ENST00000374882.8:c.189G>T MANE Select	ENSP00000364016.4:p.Arg63Ser
ENST00000650411.1:n.1510G>T
ENST00000650793.1:n.210G>T
ENST00000374881.2:c.177G>T	ENSP00000364015.2:p.Arg59Ser
ENST00000374882.7:c.189G>T	ENSP00000364016.3:p.Arg63Ser
ENST00000395339.7:c.189G>T	ENSP00000378748.3:p.Arg63Ser
ENST00000484003.1:n.415G>T
NM_004159.4:c.177G>T	NP_004150.1:p.Arg59Ser
NM_148919.3:c.189G>T	NP_683720.2:p.Arg63Ser
NM_148919.4:c.189G>T MANE Select	NP_683720.2:p.Arg63Ser
NM_004159.5:c.177G>T	NP_004150.1:p.Arg59Ser