Canonical Allele Identifier: CA3746404

Gene: PSMB8

Linked Data

• dbSNP Id: rs750586364
• ExAC: 6:32810490 T / A
• gnomAD v2: 6-32810490-T-A
• gnomAD v4: 6-32842713-T-A
• MyVariant Identifiers: chr6:g.32810490T>A (hg19) ; chr6:g.32842713T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842713T>A , CM000668.2:g.32842713T>A	GRCh38
NC_000006.11:g.32810490T>A , CM000668.1:g.32810490T>A	GRCh37
NC_000006.10:g.32918468T>A	NCBI36
NG_009793.3:g.1058A>T
NG_028165.1:g.7223A>T
NG_009793.4:g.1058A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.545A>T
ENST00000697612.1:n.1223A>T
ENST00000374881.3:c.354A>T	ENSP00000364015.2:p.Ala118=
ENST00000374882.8:c.366A>T MANE Select	ENSP00000364016.4:p.Ala122=
ENST00000650411.1:n.1687A>T
ENST00000650793.1:n.545A>T
ENST00000374881.2:c.354A>T	ENSP00000364015.2:p.Ala118=
ENST00000374882.7:c.366A>T	ENSP00000364016.3:p.Ala122=
ENST00000395339.7:c.296-2A>T	ENSP00000378748.3:n.296-2A>T
ENST00000484003.1:n.750A>T
NM_004159.4:c.354A>T	NP_004150.1:p.Ala118=
NM_148919.3:c.366A>T	NP_683720.2:p.Ala122=
NM_148919.4:c.366A>T MANE Select	NP_683720.2:p.Ala122=
NM_004159.5:c.354A>T	NP_004150.1:p.Ala118=