Canonical Allele Identifier: CA400642803

Gene: DDX5

Linked Data

• dbSNP Id: rs1555670894
• gnomAD v2: 17-62496682-C-T
• gnomAD v4: 17-64500564-C-T
• COSMIC: COSM6448815 ; COSM6448816
• MyVariant Identifiers: chr17:g.62496682C>T (hg19) ; chr17:g.64500564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500564C>T , CM000679.2:g.64500564C>T	GRCh38
NC_000017.10:g.62496682C>T , CM000679.1:g.62496682C>T	GRCh37
NC_000017.9:g.59927144C>T	NCBI36
NG_013029.1:g.1503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1426G>A MANE Select	ENSP00000225792.5:p.Glu476Lys
ENST00000450599.7:c.1426G>A	ENSP00000403085.3:p.Glu476Lys
ENST00000577922.6:c.1426G>A	ENSP00000464337.2:p.Glu476Lys
ENST00000578491.2:n.2946G>A
ENST00000579461.2:n.3501G>A
ENST00000580026.6:n.2823G>A
ENST00000582326.2:n.4412G>A
ENST00000583212.2:c.1111G>A	ENSP00000463903.2:p.Glu371Lys
ENST00000585111.2:c.1426G>A	ENSP00000463168.2:p.Glu476Lys
ENST00000585317.2:n.3633G>A
ENST00000676575.1:n.2946G>A
ENST00000676581.1:c.*176G>A	ENSP00000504407.1:n.*176G>A
ENST00000676601.1:c.*441G>A	ENSP00000504708.1:n.*441G>A
ENST00000676785.1:c.1426G>A	ENSP00000504794.1:p.Glu476Lys
ENST00000676969.1:n.2198G>A
ENST00000677726.1:c.*1041G>A	ENSP00000504260.1:n.*1041G>A
ENST00000678110.1:n.3123G>A
ENST00000678757.1:c.*176G>A	ENSP00000504731.1:n.*176G>A
ENST00000678810.1:n.3257G>A
ENST00000678814.1:c.*262G>A	ENSP00000503045.1:n.*262G>A
ENST00000678890.1:n.3450G>A
ENST00000225792.9:c.1426G>A	ENSP00000225792.5:p.Glu476Lys
ENST00000450599.6:c.1189G>A	ENSP00000403085.2:p.Glu397Lys
ENST00000540698.6:c.*1038G>A	ENSP00000440276.2:n.*1038G>A
ENST00000578758.5:n.459G>A
ENST00000578804.5:c.1426G>A	ENSP00000462885.1:p.Glu476Lys
ENST00000580026.5:n.939G>A
ENST00000581230.5:n.2832G>A
ENST00000581237.2:n.435G>A
ENST00000581693.5:c.*1143G>A	ENSP00000464566.1:n.*1143G>A
NM_004396.3:c.1426G>A	NP_004387.1:p.Glu476Lys
XM_005257111.1:c.1426G>A	XP_005257168.1:p.Glu476Lys
XM_006721738.1:c.1426G>A	XP_006721801.1:p.Glu476Lys
XM_011524456.1:c.1426G>A	XP_011522758.1:p.Glu476Lys
XM_011524457.1:c.1217-238G>A	XP_011522759.1:n.1217-238G>A
NM_001320595.1:c.1426G>A	NP_001307524.1:p.Glu476Lys
NM_001320596.2:c.1426G>A	NP_001307525.1:p.Glu476Lys
NM_001320597.1:c.1426G>A	NP_001307526.1:p.Glu476Lys
NM_004396.4:c.1426G>A	NP_004387.1:p.Glu476Lys
NM_001320595.2:c.1426G>A	NP_001307524.1:p.Glu476Lys
NM_001320597.2:c.1426G>A	NP_001307526.1:p.Glu476Lys
NM_004396.5:c.1426G>A MANE Select	NP_004387.1:p.Glu476Lys
NM_001320596.3:c.1426G>A	NP_001307525.1:p.Glu476Lys