Canonical Allele Identifier: CA449832888

Gene: PSMB8

Linked Data

• dbSNP Id: rs1051889148
• gnomAD v2: 6-32810813-A-G
• gnomAD v4: 6-32843036-A-G
• MyVariant Identifiers: chr6:g.32810813A>G (hg19) ; chr6:g.32843036A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843036A>G , CM000668.2:g.32843036A>G	GRCh38
NC_000006.11:g.32810813A>G , CM000668.1:g.32810813A>G	GRCh37
NC_000006.10:g.32918791A>G	NCBI36
NG_009793.3:g.735T>C
NG_028165.1:g.6900T>C
NG_009793.4:g.735T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.222T>C
ENST00000697612.1:n.900T>C
ENST00000374881.3:c.189T>C	ENSP00000364015.2:p.Ile63=
ENST00000374882.8:c.201T>C MANE Select	ENSP00000364016.4:p.Ile67=
ENST00000650411.1:n.1522T>C
ENST00000650793.1:n.222T>C
ENST00000374881.2:c.189T>C	ENSP00000364015.2:p.Ile63=
ENST00000374882.7:c.201T>C	ENSP00000364016.3:p.Ile67=
ENST00000395339.7:c.201T>C	ENSP00000378748.3:p.Ile67=
ENST00000484003.1:n.427T>C
NM_004159.4:c.189T>C	NP_004150.1:p.Ile63=
NM_148919.3:c.201T>C	NP_683720.2:p.Ile67=
NM_148919.4:c.201T>C MANE Select	NP_683720.2:p.Ile67=
NM_004159.5:c.189T>C	NP_004150.1:p.Ile63=