Canonical Allele Identifier: CA449753924

Gene: PSMB8

Linked Data

• dbSNP Id: rs1479373451
• gnomAD v2: 6-32810468-G-A
• gnomAD v3: 6-32842691-G-A
• gnomAD v4: 6-32842691-G-A
• MyVariant Identifiers: chr6:g.32810468G>A (hg19) ; chr6:g.32842691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842691G>A , CM000668.2:g.32842691G>A	GRCh38
NC_000006.11:g.32810468G>A , CM000668.1:g.32810468G>A	GRCh37
NC_000006.10:g.32918446G>A	NCBI36
NG_009793.3:g.1080C>T
NG_028165.1:g.7245C>T
NG_009793.4:g.1080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.567C>T
ENST00000697612.1:n.1245C>T
ENST00000374881.3:c.376C>T	ENSP00000364015.2:p.Leu126=
ENST00000374882.8:c.388C>T MANE Select	ENSP00000364016.4:p.Leu130=
ENST00000650411.1:n.1709C>T
ENST00000650793.1:n.567C>T
ENST00000374881.2:c.376C>T	ENSP00000364015.2:p.Leu126=
ENST00000374882.7:c.388C>T	ENSP00000364016.3:p.Leu130=
ENST00000395339.7:c.316C>T	ENSP00000378748.3:p.Leu106=
ENST00000484003.1:n.772C>T
NM_004159.4:c.376C>T	NP_004150.1:p.Leu126=
NM_148919.3:c.388C>T	NP_683720.2:p.Leu130=
NM_148919.4:c.388C>T MANE Select	NP_683720.2:p.Leu130=
NM_004159.5:c.376C>T	NP_004150.1:p.Leu126=