Canonical Allele Identifier: CA12350880
Gene: DDX39B HGNC NCBI
ATP6V1G2-DDX39B HGNC NCBI

Linked Data

dbSNP Id: rs2734583
gnomAD v2: 6-31505480-A-G
gnomAD v3: 6-31537703-A-G
gnomAD v4: 6-31537703-A-G
MyVariant Identifiers: chr6:g.31505480A>G (hg19) chr6:g.31537703A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31537703A>G , CM000668.2:g.31537703A>G GRCh38
NC_000006.11:g.31505480A>G , CM000668.1:g.31505480A>G GRCh37
NC_000006.10:g.31613459A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396172.6:c.433-1020T>C (DDX39B) MANE Select ENSP00000379475.1:n.433-1020T>C
ENST00000376177.6:c.433-1020T>C (DDX39B) ENSP00000365347.2:n.433-1020T>C
ENST00000376185.5:c.*647-1020T>C (ATP6V1G2-DDX39B) ENSP00000365356.1:n.*647-1020T>C
ENST00000396172.5:c.433-1020T>C (DDX39B) ENSP00000379475.1:n.433-1020T>C
ENST00000419338.5:c.433-1020T>C (DDX39B) ENSP00000410313.1:n.433-1020T>C
ENST00000427214.5:c.433-1020T>C (DDX39B) ENSP00000399371.1:n.433-1020T>C
ENST00000428098.5:c.433-1020T>C (DDX39B) ENSP00000392672.1:n.433-1020T>C
ENST00000428450.5:c.517-1020T>C (DDX39B) ENSP00000405707.1:n.517-1020T>C
ENST00000431908.5:c.199-1020T>C (DDX39B) ENSP00000408000.1:n.199-1020T>C
ENST00000449757.5:c.502-1020T>C (DDX39B) ENSP00000409426.1:n.502-1020T>C
ENST00000456662.5:c.433-1020T>C (DDX39B) ENSP00000416350.1:n.433-1020T>C
ENST00000458640.5:c.433-1020T>C (DDX39B) ENSP00000416269.1:n.433-1020T>C
ENST00000462256.5:n.503-1020T>C (DDX39B)
ENST00000481456.1:n.1902-1020T>C (DDX39B)
ENST00000482195.5:n.666-1020T>C (DDX39B)
NM_004640.6:c.433-1020T>C (DDX39B) NP_004631.1:n.433-1020T>C
NM_080598.5:c.433-1020T>C (DDX39B) NP_542165.1:n.433-1020T>C
NR_037852.1:n.870-1020T>C (DDX39B)
NR_037853.1:n.1236-1020T>C (ATP6V1G2-DDX39B)
NM_004640.7:c.433-1020T>C (DDX39B) MANE Select NP_004631.1:n.433-1020T>C
NM_080598.6:c.433-1020T>C (DDX39B) NP_542165.1:n.433-1020T>C
NR_037852.2:n.398-1020T>C (DDX39B)
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