Canonical Allele Identifier: CA400642926

Gene: DDX5

Linked Data

• MyVariant Identifiers: chr17:g.62496738A>G (hg19) ; chr17:g.64500620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64500620A>G , CM000679.2:g.64500620A>G	GRCh38
NC_000017.10:g.62496738A>G , CM000679.1:g.62496738A>G	GRCh37
NC_000017.9:g.59927200A>G	NCBI36
NG_013029.1:g.1447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225792.10:c.1370T>C MANE Select	ENSP00000225792.5:p.Ile457Thr
ENST00000450599.7:c.1370T>C	ENSP00000403085.3:p.Ile457Thr
ENST00000577922.6:c.1370T>C	ENSP00000464337.2:p.Ile457Thr
ENST00000578491.2:n.2890T>C
ENST00000579461.2:n.3445T>C
ENST00000580026.6:n.2767T>C
ENST00000582326.2:n.4356T>C
ENST00000583212.2:c.1055T>C	ENSP00000463903.2:p.Ile352Thr
ENST00000585111.2:c.1370T>C	ENSP00000463168.2:p.Ile457Thr
ENST00000585317.2:n.3577T>C
ENST00000676575.1:n.2890T>C
ENST00000676581.1:c.*120T>C	ENSP00000504407.1:n.*120T>C
ENST00000676601.1:c.*385T>C	ENSP00000504708.1:n.*385T>C
ENST00000676785.1:c.1370T>C	ENSP00000504794.1:p.Ile457Thr
ENST00000676969.1:n.2142T>C
ENST00000677726.1:c.*985T>C	ENSP00000504260.1:n.*985T>C
ENST00000678110.1:n.3067T>C
ENST00000678757.1:c.*120T>C	ENSP00000504731.1:n.*120T>C
ENST00000678810.1:n.3201T>C
ENST00000678814.1:c.*206T>C	ENSP00000503045.1:n.*206T>C
ENST00000678890.1:n.3394T>C
ENST00000225792.9:c.1370T>C	ENSP00000225792.5:p.Ile457Thr
ENST00000450599.6:c.1133T>C	ENSP00000403085.2:p.Ile378Thr
ENST00000540698.6:c.*982T>C	ENSP00000440276.2:n.*982T>C
ENST00000578758.5:n.403T>C
ENST00000578804.5:c.1370T>C	ENSP00000462885.1:p.Ile457Thr
ENST00000580026.5:n.883T>C
ENST00000581230.5:n.2776T>C
ENST00000581237.2:n.379T>C
ENST00000581693.5:c.*1087T>C	ENSP00000464566.1:n.*1087T>C
NM_004396.3:c.1370T>C	NP_004387.1:p.Ile457Thr
XM_005257111.1:c.1370T>C	XP_005257168.1:p.Ile457Thr
XM_006721738.1:c.1370T>C	XP_006721801.1:p.Ile457Thr
XM_011524456.1:c.1370T>C	XP_011522758.1:p.Ile457Thr
XM_011524457.1:c.1217-294T>C	XP_011522759.1:n.1217-294T>C
NM_001320595.1:c.1370T>C	NP_001307524.1:p.Ile457Thr
NM_001320596.2:c.1370T>C	NP_001307525.1:p.Ile457Thr
NM_001320597.1:c.1370T>C	NP_001307526.1:p.Ile457Thr
NM_004396.4:c.1370T>C	NP_004387.1:p.Ile457Thr
NM_001320595.2:c.1370T>C	NP_001307524.1:p.Ile457Thr
NM_001320597.2:c.1370T>C	NP_001307526.1:p.Ile457Thr
NM_004396.5:c.1370T>C MANE Select	NP_004387.1:p.Ile457Thr
NM_001320596.3:c.1370T>C	NP_001307525.1:p.Ile457Thr