Canonical Allele Identifier: CA400642771

Gene: DDX5

Linked Data

• gnomAD v4: 17-64500549-C-A
• MyVariant Identifiers: chr17:g.62496667C>A (hg19) ; chr17:g.64500549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500549C>A , CM000679.2:g.64500549C>A	GRCh38
NC_000017.10:g.62496667C>A , CM000679.1:g.62496667C>A	GRCh37
NC_000017.9:g.59927129C>A	NCBI36
NG_013029.1:g.1518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1441G>T MANE Select	ENSP00000225792.5:p.Gly481Cys
ENST00000450599.7:c.1441G>T	ENSP00000403085.3:p.Gly481Cys
ENST00000577922.6:c.1441G>T	ENSP00000464337.2:p.Gly481Cys
ENST00000578491.2:n.2961G>T
ENST00000579461.2:n.3516G>T
ENST00000580026.6:n.2838G>T
ENST00000582326.2:n.4427G>T
ENST00000583212.2:c.1126G>T	ENSP00000463903.2:p.Gly376Cys
ENST00000585111.2:c.1441G>T	ENSP00000463168.2:p.Gly481Cys
ENST00000585317.2:n.3648G>T
ENST00000676575.1:n.2961G>T
ENST00000676581.1:c.*191G>T	ENSP00000504407.1:n.*191G>T
ENST00000676601.1:c.*456G>T	ENSP00000504708.1:n.*456G>T
ENST00000676785.1:c.1441G>T	ENSP00000504794.1:p.Gly481Cys
ENST00000676969.1:n.2213G>T
ENST00000677726.1:c.*1056G>T	ENSP00000504260.1:n.*1056G>T
ENST00000678110.1:n.3138G>T
ENST00000678757.1:c.*191G>T	ENSP00000504731.1:n.*191G>T
ENST00000678810.1:n.3272G>T
ENST00000678814.1:c.*277G>T	ENSP00000503045.1:n.*277G>T
ENST00000678890.1:n.3465G>T
ENST00000225792.9:c.1441G>T	ENSP00000225792.5:p.Gly481Cys
ENST00000450599.6:c.1204G>T	ENSP00000403085.2:p.Gly402Cys
ENST00000540698.6:c.*1053G>T	ENSP00000440276.2:n.*1053G>T
ENST00000578758.5:n.474G>T
ENST00000578804.5:c.1441G>T	ENSP00000462885.1:p.Gly481Cys
ENST00000580026.5:n.954G>T
ENST00000581230.5:n.2847G>T
ENST00000581237.2:n.450G>T
ENST00000581693.5:c.*1158G>T	ENSP00000464566.1:n.*1158G>T
NM_004396.3:c.1441G>T	NP_004387.1:p.Gly481Cys
XM_005257111.1:c.1441G>T	XP_005257168.1:p.Gly481Cys
XM_006721738.1:c.1441G>T	XP_006721801.1:p.Gly481Cys
XM_011524456.1:c.1441G>T	XP_011522758.1:p.Gly481Cys
XM_011524457.1:c.1217-223G>T	XP_011522759.1:n.1217-223G>T
NM_001320595.1:c.1441G>T	NP_001307524.1:p.Gly481Cys
NM_001320596.2:c.1441G>T	NP_001307525.1:p.Gly481Cys
NM_001320597.1:c.1441G>T	NP_001307526.1:p.Gly481Cys
NM_004396.4:c.1441G>T	NP_004387.1:p.Gly481Cys
NM_001320595.2:c.1441G>T	NP_001307524.1:p.Gly481Cys
NM_001320597.2:c.1441G>T	NP_001307526.1:p.Gly481Cys
NM_004396.5:c.1441G>T MANE Select	NP_004387.1:p.Gly481Cys
NM_001320596.3:c.1441G>T	NP_001307525.1:p.Gly481Cys