Canonical Allele Identifier: CA400642792

Gene: DDX5

Linked Data

• gnomAD v4: 17-64500560-T-C
• MyVariant Identifiers: chr17:g.62496678T>C (hg19) ; chr17:g.64500560T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500560T>C , CM000679.2:g.64500560T>C	GRCh38
NC_000017.10:g.62496678T>C , CM000679.1:g.62496678T>C	GRCh37
NC_000017.9:g.59927140T>C	NCBI36
NG_013029.1:g.1507A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1430A>G MANE Select	ENSP00000225792.5:p.Asp477Gly
ENST00000450599.7:c.1430A>G	ENSP00000403085.3:p.Asp477Gly
ENST00000577922.6:c.1430A>G	ENSP00000464337.2:p.Asp477Gly
ENST00000578491.2:n.2950A>G
ENST00000579461.2:n.3505A>G
ENST00000580026.6:n.2827A>G
ENST00000582326.2:n.4416A>G
ENST00000583212.2:c.1115A>G	ENSP00000463903.2:p.Asp372Gly
ENST00000585111.2:c.1430A>G	ENSP00000463168.2:p.Asp477Gly
ENST00000585317.2:n.3637A>G
ENST00000676575.1:n.2950A>G
ENST00000676581.1:c.*180A>G	ENSP00000504407.1:n.*180A>G
ENST00000676601.1:c.*445A>G	ENSP00000504708.1:n.*445A>G
ENST00000676785.1:c.1430A>G	ENSP00000504794.1:p.Asp477Gly
ENST00000676969.1:n.2202A>G
ENST00000677726.1:c.*1045A>G	ENSP00000504260.1:n.*1045A>G
ENST00000678110.1:n.3127A>G
ENST00000678757.1:c.*180A>G	ENSP00000504731.1:n.*180A>G
ENST00000678810.1:n.3261A>G
ENST00000678814.1:c.*266A>G	ENSP00000503045.1:n.*266A>G
ENST00000678890.1:n.3454A>G
ENST00000225792.9:c.1430A>G	ENSP00000225792.5:p.Asp477Gly
ENST00000450599.6:c.1193A>G	ENSP00000403085.2:p.Asp398Gly
ENST00000540698.6:c.*1042A>G	ENSP00000440276.2:n.*1042A>G
ENST00000578758.5:n.463A>G
ENST00000578804.5:c.1430A>G	ENSP00000462885.1:p.Asp477Gly
ENST00000580026.5:n.943A>G
ENST00000581230.5:n.2836A>G
ENST00000581237.2:n.439A>G
ENST00000581693.5:c.*1147A>G	ENSP00000464566.1:n.*1147A>G
NM_004396.3:c.1430A>G	NP_004387.1:p.Asp477Gly
XM_005257111.1:c.1430A>G	XP_005257168.1:p.Asp477Gly
XM_006721738.1:c.1430A>G	XP_006721801.1:p.Asp477Gly
XM_011524456.1:c.1430A>G	XP_011522758.1:p.Asp477Gly
XM_011524457.1:c.1217-234A>G	XP_011522759.1:n.1217-234A>G
NM_001320595.1:c.1430A>G	NP_001307524.1:p.Asp477Gly
NM_001320596.2:c.1430A>G	NP_001307525.1:p.Asp477Gly
NM_001320597.1:c.1430A>G	NP_001307526.1:p.Asp477Gly
NM_004396.4:c.1430A>G	NP_004387.1:p.Asp477Gly
NM_001320595.2:c.1430A>G	NP_001307524.1:p.Asp477Gly
NM_001320597.2:c.1430A>G	NP_001307526.1:p.Asp477Gly
NM_004396.5:c.1430A>G MANE Select	NP_004387.1:p.Asp477Gly
NM_001320596.3:c.1430A>G	NP_001307525.1:p.Asp477Gly