Canonical Allele Identifier: CA363588346

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 429759
• ClinVar RCV Id: RCV000494135
• dbSNP Id: rs1131691573
• MyVariant Identifiers: chr6:g.32809326A>G (hg19) ; chr6:g.32841549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32841549A>G , CM000668.2:g.32841549A>G	GRCh38
NC_000006.11:g.32809326A>G , CM000668.1:g.32809326A>G	GRCh37
NC_000006.10:g.32917304A>G	NCBI36
NG_009793.3:g.2222T>C
NG_028165.1:g.8387T>C
NG_009793.4:g.2222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.1709T>C
ENST00000697612.1:n.1581T>C
ENST00000374881.3:c.712T>C	ENSP00000364015.2:p.Ser238Pro
ENST00000374882.8:c.724T>C MANE Select	ENSP00000364016.4:p.Ser242Pro
ENST00000650411.1:n.2045T>C
ENST00000374881.2:c.712T>C	ENSP00000364015.2:p.Ser238Pro
ENST00000374882.7:c.724T>C	ENSP00000364016.3:p.Ser242Pro
ENST00000395339.7:c.652T>C	ENSP00000378748.3:p.Ser218Pro
ENST00000484003.1:n.1108T>C
ENST00000490613.1:n.486T>C
NM_004159.4:c.712T>C	NP_004150.1:p.Ser238Pro
NM_148919.3:c.724T>C	NP_683720.2:p.Ser242Pro
NM_148919.4:c.724T>C MANE Select	NP_683720.2:p.Ser242Pro
NM_004159.5:c.712T>C	NP_004150.1:p.Ser238Pro