Canonical Allele Identifier: CA363589108

Gene: PSMB8

Linked Data

• gnomAD v4: 6-32842697-C-G
• MyVariant Identifiers: chr6:g.32810474C>G (hg19) ; chr6:g.32842697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842697C>G , CM000668.2:g.32842697C>G	GRCh38
NC_000006.11:g.32810474C>G , CM000668.1:g.32810474C>G	GRCh37
NC_000006.10:g.32918452C>G	NCBI36
NG_009793.3:g.1074G>C
NG_028165.1:g.7239G>C
NG_009793.4:g.1074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.561G>C
ENST00000697612.1:n.1239G>C
ENST00000374881.3:c.370G>C	ENSP00000364015.2:p.Glu124Gln
ENST00000374882.8:c.382G>C MANE Select	ENSP00000364016.4:p.Glu128Gln
ENST00000650411.1:n.1703G>C
ENST00000650793.1:n.561G>C
ENST00000374881.2:c.370G>C	ENSP00000364015.2:p.Glu124Gln
ENST00000374882.7:c.382G>C	ENSP00000364016.3:p.Glu128Gln
ENST00000395339.7:c.310G>C	ENSP00000378748.3:p.Glu104Gln
ENST00000484003.1:n.766G>C
NM_004159.4:c.370G>C	NP_004150.1:p.Glu124Gln
NM_148919.3:c.382G>C	NP_683720.2:p.Glu128Gln
NM_148919.4:c.382G>C MANE Select	NP_683720.2:p.Glu128Gln
NM_004159.5:c.370G>C	NP_004150.1:p.Glu124Gln