Canonical Allele Identifier: CA2677976924

Gene: DDX39B ATP6V1G2-DDX39B

Linked Data

• gnomAD v4: 6-31533450-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31533450A>G , CM000668.2:g.31533450A>G	GRCh38
NC_000006.11:g.31501227A>G , CM000668.1:g.31501227A>G	GRCh37
NC_000006.10:g.31609206A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396172.6:c.736-539T>C (DDX39B) MANE Select	ENSP00000379475.1:n.736-539T>C
ENST00000376177.6:c.736-539T>C (DDX39B)	ENSP00000365347.2:n.736-539T>C
ENST00000376185.5:c.*950-539T>C (ATP6V1G2-DDX39B)	ENSP00000365356.1:n.*950-539T>C
ENST00000396172.5:c.736-539T>C (DDX39B)	ENSP00000379475.1:n.736-539T>C
ENST00000417023.5:c.27-539T>C (DDX39B)
ENST00000427214.5:c.736-539T>C (DDX39B)	ENSP00000399371.1:n.736-539T>C
ENST00000431908.5:c.502-539T>C (DDX39B)	ENSP00000408000.1:n.502-539T>C
ENST00000458640.5:c.736-539T>C (DDX39B)	ENSP00000416269.1:n.736-539T>C
ENST00000462256.5:n.2722T>C (DDX39B)
ENST00000481456.1:n.4121T>C (DDX39B)
ENST00000482195.5:n.969-539T>C (DDX39B)
ENST00000484566.5:c.110-539T>C (DDX39B)
NM_004640.6:c.736-539T>C (DDX39B)	NP_004631.1:n.736-539T>C
NM_080598.5:c.736-539T>C (DDX39B)	NP_542165.1:n.736-539T>C
NR_037852.1:n.1173-539T>C (DDX39B)
NR_037853.1:n.1539-539T>C (ATP6V1G2-DDX39B)
NM_004640.7:c.736-539T>C (DDX39B) MANE Select	NP_004631.1:n.736-539T>C
NM_080598.6:c.736-539T>C (DDX39B)	NP_542165.1:n.736-539T>C
NR_037852.2:n.701-539T>C (DDX39B)