Canonical Allele Identifier: CA3746403

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 649739
• ClinVar RCV Id: RCV000804736
• dbSNP Id: rs767636318
• ExAC: 6:32810485 C / G
• gnomAD v2: 6-32810485-C-G
• gnomAD v3: 6-32842708-C-G
• gnomAD v4: 6-32842708-C-G
• MyVariant Identifiers: chr6:g.32810485C>G (hg19) ; chr6:g.32842708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842708C>G , CM000668.2:g.32842708C>G	GRCh38
NC_000006.11:g.32810485C>G , CM000668.1:g.32810485C>G	GRCh37
NC_000006.10:g.32918463C>G	NCBI36
NG_009793.3:g.1063G>C
NG_028165.1:g.7228G>C
NG_009793.4:g.1063G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.550G>C
ENST00000697612.1:n.1228G>C
ENST00000374881.3:c.359G>C	ENSP00000364015.2:p.Cys120Ser
ENST00000374882.8:c.371G>C MANE Select	ENSP00000364016.4:p.Cys124Ser
ENST00000650411.1:n.1692G>C
ENST00000650793.1:n.550G>C
ENST00000374881.2:c.359G>C	ENSP00000364015.2:p.Cys120Ser
ENST00000374882.7:c.371G>C	ENSP00000364016.3:p.Cys124Ser
ENST00000395339.7:c.299G>C	ENSP00000378748.3:p.Cys100Ser
ENST00000484003.1:n.755G>C
NM_004159.4:c.359G>C	NP_004150.1:p.Cys120Ser
NM_148919.3:c.371G>C	NP_683720.2:p.Cys124Ser
NM_148919.4:c.371G>C MANE Select	NP_683720.2:p.Cys124Ser
NM_004159.5:c.359G>C	NP_004150.1:p.Cys120Ser