Canonical Allele Identifier: CA3746448

Gene: PSMB8

Linked Data

• dbSNP Id: rs764752883
• ExAC: 6:32810738 G / A
• gnomAD v2: 6-32810738-G-A
• gnomAD v4: 6-32842961-G-A
• MyVariant Identifiers: chr6:g.32810738G>A (hg19) ; chr6:g.32842961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842961G>A , CM000668.2:g.32842961G>A	GRCh38
NC_000006.11:g.32810738G>A , CM000668.1:g.32810738G>A	GRCh37
NC_000006.10:g.32918716G>A	NCBI36
NG_009793.3:g.810C>T
NG_028165.1:g.6975C>T
NG_009793.4:g.810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.297C>T
ENST00000697612.1:n.975C>T
ENST00000374881.3:c.264C>T	ENSP00000364015.2:p.Ala88=
ENST00000374882.8:c.276C>T MANE Select	ENSP00000364016.4:p.Ala92=
ENST00000650411.1:n.1597C>T
ENST00000650793.1:n.297C>T
ENST00000374881.2:c.264C>T	ENSP00000364015.2:p.Ala88=
ENST00000374882.7:c.276C>T	ENSP00000364016.3:p.Ala92=
ENST00000395339.7:c.276C>T	ENSP00000378748.3:p.Ala92=
ENST00000484003.1:n.502C>T
NM_004159.4:c.264C>T	NP_004150.1:p.Ala88=
NM_148919.3:c.276C>T	NP_683720.2:p.Ala92=
NM_148919.4:c.276C>T MANE Select	NP_683720.2:p.Ala92=
NM_004159.5:c.264C>T	NP_004150.1:p.Ala88=