Canonical Allele Identifier: CA12187826
Gene: DDX39B HGNC NCBI
ATP6V1G2-DDX39B HGNC NCBI

Linked Data

dbSNP Id: rs11796
gnomAD v2: 6-31501212-A-T
gnomAD v3: 6-31533435-A-T
gnomAD v4: 6-31533435-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31533435A>T , CM000668.2:g.31533435A>T GRCh38
NC_000006.11:g.31501212A>T , CM000668.1:g.31501212A>T GRCh37
NC_000006.10:g.31609191A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396172.6:c.736-524T>A (DDX39B) MANE Select ENSP00000379475.1:n.736-524T>A
ENST00000376177.6:c.736-524T>A (DDX39B) ENSP00000365347.2:n.736-524T>A
ENST00000376185.5:c.*950-524T>A (ATP6V1G2-DDX39B) ENSP00000365356.1:n.*950-524T>A
ENST00000396172.5:c.736-524T>A (DDX39B) ENSP00000379475.1:n.736-524T>A
ENST00000417023.5:c.27-524T>A (DDX39B)
ENST00000427214.5:c.736-524T>A (DDX39B) ENSP00000399371.1:n.736-524T>A
ENST00000431908.5:c.502-524T>A (DDX39B) ENSP00000408000.1:n.502-524T>A
ENST00000458640.5:c.736-524T>A (DDX39B) ENSP00000416269.1:n.736-524T>A
ENST00000462256.5:n.2737T>A (DDX39B)
ENST00000481456.1:n.4136T>A (DDX39B)
ENST00000482195.5:n.969-524T>A (DDX39B)
ENST00000484566.5:c.110-524T>A (DDX39B)
NM_004640.6:c.736-524T>A (DDX39B) NP_004631.1:n.736-524T>A
NM_080598.5:c.736-524T>A (DDX39B) NP_542165.1:n.736-524T>A
NR_037852.1:n.1173-524T>A (DDX39B)
NR_037853.1:n.1539-524T>A (ATP6V1G2-DDX39B)
NM_004640.7:c.736-524T>A (DDX39B) MANE Select NP_004631.1:n.736-524T>A
NM_080598.6:c.736-524T>A (DDX39B) NP_542165.1:n.736-524T>A
NR_037852.2:n.701-524T>A (DDX39B)