Canonical Allele Identifier: CA6501496

Gene: DDX11

Linked Data

• ClinVar Variation Id: 252749
• ClinVar RCV Id: RCV000238763 ; RCV000991173
• dbSNP Id: rs148856317
• ExAC: 12:31250818 G / C
• gnomAD v2: 12-31250818-G-C
• gnomAD v3: 12-31097884-G-C
• gnomAD v4: 12-31097884-G-C
• MyVariant Identifiers: chr12:g.31250818G>C (hg19) ; chr12:g.31097884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.31097884G>C , CM000674.2:g.31097884G>C	GRCh38
NC_000012.11:g.31250818G>C , CM000674.1:g.31250818G>C	GRCh37
NC_000012.10:g.31142085G>C	NCBI36
NG_023352.1:g.29040G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542838.6:c.1763-1G>C MANE Select	ENSP00000443426.1:n.1763-1G>C
ENST00000228264.10:c.1685-1G>C	ENSP00000228264.6:n.1685-1G>C
ENST00000350437.8:c.1763-1G>C	ENSP00000309965.5:n.1763-1G>C
ENST00000435753.6:c.*1079-1G>C	ENSP00000406799.2:n.*1079-1G>C
ENST00000536265.5:n.2363-1G>C
ENST00000538345.1:c.50-4567G>C	ENSP00000445219.1:n.50-4567G>C
ENST00000539049.5:c.*864-1G>C	ENSP00000445568.1:n.*864-1G>C
ENST00000539673.5:n.505-1G>C
ENST00000539699.5:n.244-1G>C
ENST00000542661.1:n.78-1G>C
ENST00000542838.5:c.1763-1G>C	ENSP00000443426.1:n.1763-1G>C
ENST00000545668.5:c.1763-1G>C	ENSP00000440402.1:n.1763-1G>C
NM_001257144.1:c.1763-1G>C	NP_001244073.1:n.1763-1G>C
NM_001257145.1:c.1685-1G>C	NP_001244074.1:n.1685-1G>C
NM_004399.2:c.1763-1G>C	NP_004390.3:n.1763-1G>C
NM_030653.3:c.1763-1G>C	NP_085911.2:n.1763-1G>C
NM_152438.1:c.1763-1G>C	NP_689651.1:n.1763-1G>C
XM_005253331.2:c.1871-1G>C	XP_005253388.1:n.1871-1G>C
XM_005253333.2:c.1871-1G>C	XP_005253390.1:n.1871-1G>C
XM_006719041.2:c.1871-1G>C	XP_006719104.1:n.1871-1G>C
XM_006719043.2:c.1871-1G>C	XP_006719106.1:n.1871-1G>C
XM_006719044.1:c.1763-1G>C	XP_006719107.1:n.1763-1G>C
XM_006719045.2:c.1763-1G>C	XP_006719108.1:n.1763-1G>C
XM_006719046.2:c.1763-1G>C	XP_006719109.1:n.1763-1G>C
XM_006719047.2:c.1763-1G>C	XP_006719110.1:n.1763-1G>C
XM_006719048.1:c.1685-1G>C	XP_006719111.1:n.1685-1G>C
XM_006719049.2:c.1685-1G>C	XP_006719112.1:n.1685-1G>C
XM_006719050.2:c.1871-1G>C	XP_006719113.1:n.1871-1G>C
XM_006719051.2:c.1871-1G>C	XP_006719114.1:n.1871-1G>C
XM_006719052.2:c.1871-1G>C	XP_006719115.1:n.1871-1G>C
XM_006719053.2:c.1139-1G>C	XP_006719116.1:n.1139-1G>C
XM_011520592.1:c.1871-1G>C	XP_011518894.1:n.1871-1G>C
XM_011520593.1:c.1871-1G>C	XP_011518895.1:n.1871-1G>C
XM_011520594.1:c.1871-1G>C	XP_011518896.1:n.1871-1G>C
XM_011520595.1:c.1871-1G>C	XP_011518897.1:n.1871-1G>C
XM_011520596.1:c.902-1G>C	XP_011518898.1:n.902-1G>C
XM_011520597.1:c.1871-1G>C	XP_011518899.1:n.1871-1G>C
XR_429031.2:n.2153-1G>C
XR_931278.1:n.2154-1G>C
XR_931279.1:n.2153-1G>C
XR_931280.1:n.2153-1G>C
XR_931281.1:n.2154-1G>C
XM_005253331.4:c.1871-1G>C	XP_005253388.1:n.1871-1G>C
XM_005253333.4:c.1871-1G>C	XP_005253390.1:n.1871-1G>C
XM_006719050.4:c.1871-1G>C	XP_006719113.1:n.1871-1G>C
XM_011520592.3:c.1871-1G>C	XP_011518894.1:n.1871-1G>C
XM_011520595.3:c.1871-1G>C	XP_011518897.1:n.1871-1G>C
XM_011520597.3:c.1871-1G>C	XP_011518899.1:n.1871-1G>C
XM_017018918.2:c.1871-1G>C	XP_016874407.1:n.1871-1G>C
XM_017018919.2:c.1871-1G>C	XP_016874408.1:n.1871-1G>C
XM_017018920.2:c.1871-1G>C	XP_016874409.1:n.1871-1G>C
XM_017018921.2:c.1871-1G>C	XP_016874410.1:n.1871-1G>C
XM_017018922.1:c.1763-1G>C	XP_016874411.1:n.1763-1G>C
XM_017018923.1:c.1763-1G>C	XP_016874412.1:n.1763-1G>C
XM_017018924.2:c.1763-1G>C	XP_016874413.1:n.1763-1G>C
XM_017018925.1:c.1763-1G>C	XP_016874414.1:n.1763-1G>C
XM_017018926.2:c.1871-1G>C	XP_016874415.1:n.1871-1G>C
XM_017018927.2:c.1871-1G>C	XP_016874416.1:n.1871-1G>C
XM_017018928.2:c.1871-1G>C	XP_016874417.1:n.1871-1G>C
XM_017018929.2:c.1871-1G>C	XP_016874418.1:n.1871-1G>C
XM_017018930.2:c.1871-1G>C	XP_016874419.1:n.1871-1G>C
XM_017018931.1:c.1763-1G>C	XP_016874420.1:n.1763-1G>C
XM_017018932.1:c.1763-1G>C	XP_016874421.1:n.1763-1G>C
XM_017018933.2:c.1139-1G>C	XP_016874422.1:n.1139-1G>C
XM_017018934.1:c.1763-1G>C	XP_016874423.1:n.1763-1G>C
XM_017018935.1:c.902-1G>C	XP_016874424.1:n.902-1G>C
XM_017018936.1:c.902-1G>C	XP_016874425.1:n.902-1G>C
XM_017018937.1:c.902-1G>C	XP_016874426.1:n.902-1G>C
XM_017018938.2:c.1871-1G>C	XP_016874427.1:n.1871-1G>C
XM_017018939.2:c.1871-1G>C	XP_016874428.1:n.1871-1G>C
XR_001748606.2:n.2192-1G>C
XR_001748607.2:n.2194-1G>C
XR_001748608.2:n.2193-1G>C
XR_001748609.2:n.2193-1G>C
XR_001748610.2:n.2193-1G>C
XR_001748611.2:n.2194-1G>C
XR_001748613.2:n.2189-1G>C
XR_001748614.2:n.2189-1G>C
XR_001748615.2:n.2190-1G>C
XR_001748616.2:n.2190-1G>C
XR_001748617.2:n.2190-1G>C
XR_002957297.1:n.2190-1G>C
XR_002957298.1:n.2189-1G>C
XR_429031.4:n.2188-1G>C
NM_030653.4:c.1763-1G>C MANE Select	NP_085911.2:n.1763-1G>C
NM_001257144.2:c.1763-1G>C	NP_001244073.1:n.1763-1G>C
NM_001257145.2:c.1685-1G>C	NP_001244074.1:n.1685-1G>C
NM_004399.3:c.1763-1G>C	NP_004390.3:n.1763-1G>C
NM_152438.2:c.1763-1G>C	NP_689651.1:n.1763-1G>C