Canonical Allele Identifier: CA1619199319
Gene: DDX39B HGNC NCBI
ATP6V1G2-DDX39B HGNC NCBI

Linked Data

dbSNP Id: rs3130059

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31541507G>T , CM000668.2:g.31541507G>T GRCh38
NC_000006.11:g.31509284G>T , CM000668.1:g.31509284G>T GRCh37
NC_000006.10:g.31617263G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396172.6:c.-133+443C>A (DDX39B) MANE Select ENSP00000379475.1:n.-133+443C>A
ENST00000376185.5:c.*82+443C>A (ATP6V1G2-DDX39B) ENSP00000365356.1:n.*82+443C>A
ENST00000396172.5:c.-133+443C>A (DDX39B) ENSP00000379475.1:n.-133+443C>A
ENST00000418897.5:c.-132-180C>A (DDX39B) ENSP00000399841.1:n.-132-180C>A
ENST00000419020.1:c.-133+443C>A (DDX39B) ENSP00000405245.1:n.-133+443C>A
ENST00000427214.5:c.-114C>A (DDX39B) ENSP00000399371.1:n.-114C>A
ENST00000428098.5:c.-35+443C>A (DDX39B) ENSP00000392672.1:n.-35+443C>A
ENST00000428450.5:c.-3+443C>A (DDX39B) ENSP00000405707.1:n.-3+443C>A
ENST00000431908.5:c.-146+443C>A (DDX39B) ENSP00000408000.1:n.-146+443C>A
ENST00000449757.5:c.67+127C>A (DDX39B) ENSP00000409426.1:n.67+127C>A
ENST00000456662.5:c.-133+326C>A (DDX39B) ENSP00000416350.1:n.-133+326C>A
ENST00000456976.5:c.-307-180C>A (DDX39B) ENSP00000393984.1:n.-307-180C>A
ENST00000458640.5:c.-3+443C>A (DDX39B) ENSP00000416269.1:n.-3+443C>A
ENST00000462256.5:n.68+443C>A (DDX39B)
ENST00000480131.1:c.*82+443C>A (ATP6V1G2-DDX39B) ENSP00000420191.1:n.*82+443C>A
ENST00000481456.1:n.495C>A (DDX39B)
ENST00000482195.5:n.452+443C>A (DDX39B)
NM_004640.6:c.-133+443C>A (DDX39B) NP_004631.1:n.-133+443C>A
NM_080598.5:c.-3+443C>A (DDX39B) NP_542165.1:n.-3+443C>A
NR_037852.1:n.526+443C>A (DDX39B)
NR_037853.1:n.671+443C>A (ATP6V1G2-DDX39B)
NM_004640.7:c.-133+443C>A (DDX39B) MANE Select NP_004631.1:n.-133+443C>A
NM_080598.6:c.-3+443C>A (DDX39B) NP_542165.1:n.-3+443C>A
NR_037852.2:n.54+443C>A (DDX39B)