Canonical Allele Identifier: CA3747203
Gene: PSMB9 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32857313G>T
GRCh37 chr6:g.32825090G>T
Revel Score:
ENST00000395330 0.103
ENST00000414474 0.103
ENST00000374859 (MANE Select) 0.103
gnomAD v2:
6:32825090 G / T
gnomAD v3:
6:32857313 G / T
gnomAD v4:
chr6-32857313-G-T
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
dbSNP:
17587
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32857313G>T , CM000668.2:g.32857313G>T GRCh38
NC_000006.11:g.32825090G>T , CM000668.1:g.32825090G>T GRCh37
NC_000006.10:g.32933068G>T NCBI36
NG_011759.1:g.1659C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374859.3:c.179G>T MANE Select ENSP00000363993.2:p.Arg60Leu
ENST00000374859.2:c.179G>T ENSP00000363993.2:p.Arg60Leu
ENST00000395330.5:c.110G>T ENSP00000378739.1:p.Arg37Leu
ENST00000414474.5:c.110G>T ENSP00000394363.1:p.Arg37Leu
ENST00000464863.1:n.1318G>T
ENST00000467593.1:n.160G>T
NM_002800.4:c.179G>T NP_002791.1:p.Arg60Leu
NM_002800.5:c.179G>T MANE Select NP_002791.1:p.Arg60Leu
Search 100 bp 5'
Search 100 bp 3'