Canonical Allele Identifier: CA363589156

Gene: PSMB8

Linked Data

• dbSNP Id: rs1259192195
• gnomAD v2: 6-32810492-C-T
• gnomAD v4: 6-32842715-C-T
• MyVariant Identifiers: chr6:g.32810492C>T (hg19) ; chr6:g.32842715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842715C>T , CM000668.2:g.32842715C>T	GRCh38
NC_000006.11:g.32810492C>T , CM000668.1:g.32810492C>T	GRCh37
NC_000006.10:g.32918470C>T	NCBI36
NG_009793.3:g.1056G>A
NG_028165.1:g.7221G>A
NG_009793.4:g.1056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.543G>A
ENST00000697612.1:n.1221G>A
ENST00000374881.3:c.352G>A	ENSP00000364015.2:p.Ala118Thr
ENST00000374882.8:c.364G>A MANE Select	ENSP00000364016.4:p.Ala122Thr
ENST00000650411.1:n.1685G>A
ENST00000650793.1:n.543G>A
ENST00000374881.2:c.352G>A	ENSP00000364015.2:p.Ala118Thr
ENST00000374882.7:c.364G>A	ENSP00000364016.3:p.Ala122Thr
ENST00000395339.7:c.296-4G>A	ENSP00000378748.3:n.296-4G>A
ENST00000484003.1:n.748G>A
NM_004159.4:c.352G>A	NP_004150.1:p.Ala118Thr
NM_148919.3:c.364G>A	NP_683720.2:p.Ala122Thr
NM_148919.4:c.364G>A MANE Select	NP_683720.2:p.Ala122Thr
NM_004159.5:c.352G>A	NP_004150.1:p.Ala118Thr