Canonical Allele Identifier: CA400642776

Gene: DDX5

Linked Data

• MyVariant Identifiers: chr17:g.62496669G>A (hg19) ; chr17:g.64500551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500551G>A , CM000679.2:g.64500551G>A	GRCh38
NC_000017.10:g.62496669G>A , CM000679.1:g.62496669G>A	GRCh37
NC_000017.9:g.59927131G>A	NCBI36
NG_013029.1:g.1516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1439C>T MANE Select	ENSP00000225792.5:p.Ser480Leu
ENST00000450599.7:c.1439C>T	ENSP00000403085.3:p.Ser480Leu
ENST00000577922.6:c.1439C>T	ENSP00000464337.2:p.Ser480Leu
ENST00000578491.2:n.2959C>T
ENST00000579461.2:n.3514C>T
ENST00000580026.6:n.2836C>T
ENST00000582326.2:n.4425C>T
ENST00000583212.2:c.1124C>T	ENSP00000463903.2:p.Ser375Leu
ENST00000585111.2:c.1439C>T	ENSP00000463168.2:p.Ser480Leu
ENST00000585317.2:n.3646C>T
ENST00000676575.1:n.2959C>T
ENST00000676581.1:c.*189C>T	ENSP00000504407.1:n.*189C>T
ENST00000676601.1:c.*454C>T	ENSP00000504708.1:n.*454C>T
ENST00000676785.1:c.1439C>T	ENSP00000504794.1:p.Ser480Leu
ENST00000676969.1:n.2211C>T
ENST00000677726.1:c.*1054C>T	ENSP00000504260.1:n.*1054C>T
ENST00000678110.1:n.3136C>T
ENST00000678757.1:c.*189C>T	ENSP00000504731.1:n.*189C>T
ENST00000678810.1:n.3270C>T
ENST00000678814.1:c.*275C>T	ENSP00000503045.1:n.*275C>T
ENST00000678890.1:n.3463C>T
ENST00000225792.9:c.1439C>T	ENSP00000225792.5:p.Ser480Leu
ENST00000450599.6:c.1202C>T	ENSP00000403085.2:p.Ser401Leu
ENST00000540698.6:c.*1051C>T	ENSP00000440276.2:n.*1051C>T
ENST00000578758.5:n.472C>T
ENST00000578804.5:c.1439C>T	ENSP00000462885.1:p.Ser480Leu
ENST00000580026.5:n.952C>T
ENST00000581230.5:n.2845C>T
ENST00000581237.2:n.448C>T
ENST00000581693.5:c.*1156C>T	ENSP00000464566.1:n.*1156C>T
NM_004396.3:c.1439C>T	NP_004387.1:p.Ser480Leu
XM_005257111.1:c.1439C>T	XP_005257168.1:p.Ser480Leu
XM_006721738.1:c.1439C>T	XP_006721801.1:p.Ser480Leu
XM_011524456.1:c.1439C>T	XP_011522758.1:p.Ser480Leu
XM_011524457.1:c.1217-225C>T	XP_011522759.1:n.1217-225C>T
NM_001320595.1:c.1439C>T	NP_001307524.1:p.Ser480Leu
NM_001320596.2:c.1439C>T	NP_001307525.1:p.Ser480Leu
NM_001320597.1:c.1439C>T	NP_001307526.1:p.Ser480Leu
NM_004396.4:c.1439C>T	NP_004387.1:p.Ser480Leu
NM_001320595.2:c.1439C>T	NP_001307524.1:p.Ser480Leu
NM_001320597.2:c.1439C>T	NP_001307526.1:p.Ser480Leu
NM_004396.5:c.1439C>T MANE Select	NP_004387.1:p.Ser480Leu
NM_001320596.3:c.1439C>T	NP_001307525.1:p.Ser480Leu