Canonical Allele Identifier: CA400642980

Gene: DDX5

Linked Data

• MyVariant Identifiers: chr17:g.62496760T>G (hg19) ; chr17:g.64500642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500642T>G , CM000679.2:g.64500642T>G	GRCh38
NC_000017.10:g.62496760T>G , CM000679.1:g.62496760T>G	GRCh37
NC_000017.9:g.59927222T>G	NCBI36
NG_013029.1:g.1425A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1348A>C MANE Select	ENSP00000225792.5:p.Ile450Leu
ENST00000450599.7:c.1348A>C	ENSP00000403085.3:p.Ile450Leu
ENST00000577922.6:c.1348A>C	ENSP00000464337.2:p.Ile450Leu
ENST00000578491.2:n.2868A>C
ENST00000579461.2:n.3423A>C
ENST00000580026.6:n.2745A>C
ENST00000582326.2:n.4334A>C
ENST00000583212.2:c.1033A>C	ENSP00000463903.2:p.Ile345Leu
ENST00000585111.2:c.1348A>C	ENSP00000463168.2:p.Ile450Leu
ENST00000585317.2:n.3555A>C
ENST00000676575.1:n.2868A>C
ENST00000676581.1:c.*98A>C	ENSP00000504407.1:n.*98A>C
ENST00000676601.1:c.*363A>C	ENSP00000504708.1:n.*363A>C
ENST00000676785.1:c.1348A>C	ENSP00000504794.1:p.Ile450Leu
ENST00000676969.1:n.2120A>C
ENST00000677726.1:c.*963A>C	ENSP00000504260.1:n.*963A>C
ENST00000678110.1:n.3045A>C
ENST00000678757.1:c.*98A>C	ENSP00000504731.1:n.*98A>C
ENST00000678810.1:n.3179A>C
ENST00000678814.1:c.*184A>C	ENSP00000503045.1:n.*184A>C
ENST00000678890.1:n.3372A>C
ENST00000225792.9:c.1348A>C	ENSP00000225792.5:p.Ile450Leu
ENST00000450599.6:c.1111A>C	ENSP00000403085.2:p.Ile371Leu
ENST00000540698.6:c.*960A>C	ENSP00000440276.2:n.*960A>C
ENST00000578758.5:n.381A>C
ENST00000578804.5:c.1348A>C	ENSP00000462885.1:p.Ile450Leu
ENST00000580026.5:n.861A>C
ENST00000581230.5:n.2754A>C
ENST00000581237.2:n.357A>C
ENST00000581693.5:c.*1065A>C	ENSP00000464566.1:n.*1065A>C
NM_004396.3:c.1348A>C	NP_004387.1:p.Ile450Leu
XM_005257111.1:c.1348A>C	XP_005257168.1:p.Ile450Leu
XM_006721738.1:c.1348A>C	XP_006721801.1:p.Ile450Leu
XM_011524456.1:c.1348A>C	XP_011522758.1:p.Ile450Leu
XM_011524457.1:c.1217-316A>C	XP_011522759.1:n.1217-316A>C
NM_001320595.1:c.1348A>C	NP_001307524.1:p.Ile450Leu
NM_001320596.2:c.1348A>C	NP_001307525.1:p.Ile450Leu
NM_001320597.1:c.1348A>C	NP_001307526.1:p.Ile450Leu
NM_004396.4:c.1348A>C	NP_004387.1:p.Ile450Leu
NM_001320595.2:c.1348A>C	NP_001307524.1:p.Ile450Leu
NM_001320597.2:c.1348A>C	NP_001307526.1:p.Ile450Leu
NM_004396.5:c.1348A>C MANE Select	NP_004387.1:p.Ile450Leu
NM_001320596.3:c.1348A>C	NP_001307525.1:p.Ile450Leu