Canonical Allele Identifier: CA501460187
Gene: DDX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62496758T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64500640T>G , CM000679.2:g.64500640T>G GRCh38
NC_000017.10:g.62496758T>G , CM000679.1:g.62496758T>G GRCh37
NC_000017.9:g.59927220T>G NCBI36
NG_013029.1:g.1427A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225792.10:c.1350A>C MANE Select ENSP00000225792.5:p.Ile450=
ENST00000450599.7:c.1350A>C ENSP00000403085.3:p.Ile450=
ENST00000577922.6:c.1350A>C ENSP00000464337.2:p.Ile450=
ENST00000578491.2:n.2870A>C
ENST00000579461.2:n.3425A>C
ENST00000580026.6:n.2747A>C
ENST00000582326.2:n.4336A>C
ENST00000583212.2:c.1035A>C ENSP00000463903.2:p.Ile345=
ENST00000585111.2:c.1350A>C ENSP00000463168.2:p.Ile450=
ENST00000585317.2:n.3557A>C
ENST00000676575.1:n.2870A>C
ENST00000676581.1:c.*100A>C ENSP00000504407.1:n.*100A>C
ENST00000676601.1:c.*365A>C ENSP00000504708.1:n.*365A>C
ENST00000676785.1:c.1350A>C ENSP00000504794.1:p.Ile450=
ENST00000676969.1:n.2122A>C
ENST00000677726.1:c.*965A>C ENSP00000504260.1:n.*965A>C
ENST00000678110.1:n.3047A>C
ENST00000678757.1:c.*100A>C ENSP00000504731.1:n.*100A>C
ENST00000678810.1:n.3181A>C
ENST00000678814.1:c.*186A>C ENSP00000503045.1:n.*186A>C
ENST00000678890.1:n.3374A>C
ENST00000225792.9:c.1350A>C ENSP00000225792.5:p.Ile450=
ENST00000450599.6:c.1113A>C ENSP00000403085.2:p.Ile371=
ENST00000540698.6:c.*962A>C ENSP00000440276.2:n.*962A>C
ENST00000578758.5:n.383A>C
ENST00000578804.5:c.1350A>C ENSP00000462885.1:p.Ile450=
ENST00000580026.5:n.863A>C
ENST00000581230.5:n.2756A>C
ENST00000581237.2:n.359A>C
ENST00000581693.5:c.*1067A>C ENSP00000464566.1:n.*1067A>C
NM_004396.3:c.1350A>C NP_004387.1:p.Ile450=
XM_005257111.1:c.1350A>C XP_005257168.1:p.Ile450=
XM_006721738.1:c.1350A>C XP_006721801.1:p.Ile450=
XM_011524456.1:c.1350A>C XP_011522758.1:p.Ile450=
XM_011524457.1:c.1217-314A>C XP_011522759.1:n.1217-314A>C
NM_001320595.1:c.1350A>C NP_001307524.1:p.Ile450=
NM_001320596.2:c.1350A>C NP_001307525.1:p.Ile450=
NM_001320597.1:c.1350A>C NP_001307526.1:p.Ile450=
NM_004396.4:c.1350A>C NP_004387.1:p.Ile450=
NM_001320595.2:c.1350A>C NP_001307524.1:p.Ile450=
NM_001320597.2:c.1350A>C NP_001307526.1:p.Ile450=
NM_004396.5:c.1350A>C MANE Select NP_004387.1:p.Ile450=
NM_001320596.3:c.1350A>C NP_001307525.1:p.Ile450=