Canonical Allele Identifier: CA137008094

Gene: PSMB8

Linked Data

• dbSNP Id: rs779738355
• gnomAD v4: 6-32843011-G-A
• MyVariant Identifiers: chr6:g.32810788G>A (hg19) ; chr6:g.32843011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843011G>A , CM000668.2:g.32843011G>A	GRCh38
NC_000006.11:g.32810788G>A , CM000668.1:g.32810788G>A	GRCh37
NC_000006.10:g.32918766G>A	NCBI36
NG_009793.3:g.760C>T
NG_028165.1:g.6925C>T
NG_009793.4:g.760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.247C>T
ENST00000697612.1:n.925C>T
ENST00000374881.3:c.214C>T	ENSP00000364015.2:p.Leu72Phe
ENST00000374882.8:c.226C>T MANE Select	ENSP00000364016.4:p.Leu76Phe
ENST00000650411.1:n.1547C>T
ENST00000650793.1:n.247C>T
ENST00000374881.2:c.214C>T	ENSP00000364015.2:p.Leu72Phe
ENST00000374882.7:c.226C>T	ENSP00000364016.3:p.Leu76Phe
ENST00000395339.7:c.226C>T	ENSP00000378748.3:p.Leu76Phe
ENST00000484003.1:n.452C>T
NM_004159.4:c.214C>T	NP_004150.1:p.Leu72Phe
NM_148919.3:c.226C>T	NP_683720.2:p.Leu76Phe
NM_148919.4:c.226C>T MANE Select	NP_683720.2:p.Leu76Phe
NM_004159.5:c.214C>T	NP_004150.1:p.Leu72Phe