Canonical Allele Identifier: CA400642975

Gene: DDX5

Linked Data

• gnomAD v4: 17-64500641-A-G
• MyVariant Identifiers: chr17:g.62496759A>G (hg19) ; chr17:g.64500641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500641A>G , CM000679.2:g.64500641A>G	GRCh38
NC_000017.10:g.62496759A>G , CM000679.1:g.62496759A>G	GRCh37
NC_000017.9:g.59927221A>G	NCBI36
NG_013029.1:g.1426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1349T>C MANE Select	ENSP00000225792.5:p.Ile450Thr
ENST00000450599.7:c.1349T>C	ENSP00000403085.3:p.Ile450Thr
ENST00000577922.6:c.1349T>C	ENSP00000464337.2:p.Ile450Thr
ENST00000578491.2:n.2869T>C
ENST00000579461.2:n.3424T>C
ENST00000580026.6:n.2746T>C
ENST00000582326.2:n.4335T>C
ENST00000583212.2:c.1034T>C	ENSP00000463903.2:p.Ile345Thr
ENST00000585111.2:c.1349T>C	ENSP00000463168.2:p.Ile450Thr
ENST00000585317.2:n.3556T>C
ENST00000676575.1:n.2869T>C
ENST00000676581.1:c.*99T>C	ENSP00000504407.1:n.*99T>C
ENST00000676601.1:c.*364T>C	ENSP00000504708.1:n.*364T>C
ENST00000676785.1:c.1349T>C	ENSP00000504794.1:p.Ile450Thr
ENST00000676969.1:n.2121T>C
ENST00000677726.1:c.*964T>C	ENSP00000504260.1:n.*964T>C
ENST00000678110.1:n.3046T>C
ENST00000678757.1:c.*99T>C	ENSP00000504731.1:n.*99T>C
ENST00000678810.1:n.3180T>C
ENST00000678814.1:c.*185T>C	ENSP00000503045.1:n.*185T>C
ENST00000678890.1:n.3373T>C
ENST00000225792.9:c.1349T>C	ENSP00000225792.5:p.Ile450Thr
ENST00000450599.6:c.1112T>C	ENSP00000403085.2:p.Ile371Thr
ENST00000540698.6:c.*961T>C	ENSP00000440276.2:n.*961T>C
ENST00000578758.5:n.382T>C
ENST00000578804.5:c.1349T>C	ENSP00000462885.1:p.Ile450Thr
ENST00000580026.5:n.862T>C
ENST00000581230.5:n.2755T>C
ENST00000581237.2:n.358T>C
ENST00000581693.5:c.*1066T>C	ENSP00000464566.1:n.*1066T>C
NM_004396.3:c.1349T>C	NP_004387.1:p.Ile450Thr
XM_005257111.1:c.1349T>C	XP_005257168.1:p.Ile450Thr
XM_006721738.1:c.1349T>C	XP_006721801.1:p.Ile450Thr
XM_011524456.1:c.1349T>C	XP_011522758.1:p.Ile450Thr
XM_011524457.1:c.1217-315T>C	XP_011522759.1:n.1217-315T>C
NM_001320595.1:c.1349T>C	NP_001307524.1:p.Ile450Thr
NM_001320596.2:c.1349T>C	NP_001307525.1:p.Ile450Thr
NM_001320597.1:c.1349T>C	NP_001307526.1:p.Ile450Thr
NM_004396.4:c.1349T>C	NP_004387.1:p.Ile450Thr
NM_001320595.2:c.1349T>C	NP_001307524.1:p.Ile450Thr
NM_001320597.2:c.1349T>C	NP_001307526.1:p.Ile450Thr
NM_004396.5:c.1349T>C MANE Select	NP_004387.1:p.Ile450Thr
NM_001320596.3:c.1349T>C	NP_001307525.1:p.Ile450Thr