Canonical Allele Identifier: CA501460117

Gene: DDX5

Linked Data

• dbSNP Id: rs1568100413
• MyVariant Identifiers: chr17:g.62496707A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500589A>G , CM000679.2:g.64500589A>G	GRCh38
NC_000017.10:g.62496707A>G , CM000679.1:g.62496707A>G	GRCh37
NC_000017.9:g.59927169A>G	NCBI36
NG_013029.1:g.1478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1401T>C MANE Select	ENSP00000225792.5:p.Ile467=
ENST00000450599.7:c.1401T>C	ENSP00000403085.3:p.Ile467=
ENST00000577922.6:c.1401T>C	ENSP00000464337.2:p.Ile467=
ENST00000578491.2:n.2921T>C
ENST00000579461.2:n.3476T>C
ENST00000580026.6:n.2798T>C
ENST00000582326.2:n.4387T>C
ENST00000583212.2:c.1086T>C	ENSP00000463903.2:p.Ile362=
ENST00000585111.2:c.1401T>C	ENSP00000463168.2:p.Ile467=
ENST00000585317.2:n.3608T>C
ENST00000676575.1:n.2921T>C
ENST00000676581.1:c.*151T>C	ENSP00000504407.1:n.*151T>C
ENST00000676601.1:c.*416T>C	ENSP00000504708.1:n.*416T>C
ENST00000676785.1:c.1401T>C	ENSP00000504794.1:p.Ile467=
ENST00000676969.1:n.2173T>C
ENST00000677726.1:c.*1016T>C	ENSP00000504260.1:n.*1016T>C
ENST00000678110.1:n.3098T>C
ENST00000678757.1:c.*151T>C	ENSP00000504731.1:n.*151T>C
ENST00000678810.1:n.3232T>C
ENST00000678814.1:c.*237T>C	ENSP00000503045.1:n.*237T>C
ENST00000678890.1:n.3425T>C
ENST00000225792.9:c.1401T>C	ENSP00000225792.5:p.Ile467=
ENST00000450599.6:c.1164T>C	ENSP00000403085.2:p.Ile388=
ENST00000540698.6:c.*1013T>C	ENSP00000440276.2:n.*1013T>C
ENST00000578758.5:n.434T>C
ENST00000578804.5:c.1401T>C	ENSP00000462885.1:p.Ile467=
ENST00000580026.5:n.914T>C
ENST00000581230.5:n.2807T>C
ENST00000581237.2:n.410T>C
ENST00000581693.5:c.*1118T>C	ENSP00000464566.1:n.*1118T>C
NM_004396.3:c.1401T>C	NP_004387.1:p.Ile467=
XM_005257111.1:c.1401T>C	XP_005257168.1:p.Ile467=
XM_006721738.1:c.1401T>C	XP_006721801.1:p.Ile467=
XM_011524456.1:c.1401T>C	XP_011522758.1:p.Ile467=
XM_011524457.1:c.1217-263T>C	XP_011522759.1:n.1217-263T>C
NM_001320595.1:c.1401T>C	NP_001307524.1:p.Ile467=
NM_001320596.2:c.1401T>C	NP_001307525.1:p.Ile467=
NM_001320597.1:c.1401T>C	NP_001307526.1:p.Ile467=
NM_004396.4:c.1401T>C	NP_004387.1:p.Ile467=
NM_001320595.2:c.1401T>C	NP_001307524.1:p.Ile467=
NM_001320597.2:c.1401T>C	NP_001307526.1:p.Ile467=
NM_004396.5:c.1401T>C MANE Select	NP_004387.1:p.Ile467=
NM_001320596.3:c.1401T>C	NP_001307525.1:p.Ile467=