Canonical Allele Identifier: CA5034595
Gene: DNAI1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.34517465A>G
GRCh37 chr9:g.34517463A>G
Revel Score:
ENST00000242317 (MANE Select) 0.553
gnomAD v2:
9:34517463 A / G
gnomAD v3:
9:34517465 A / G
gnomAD v4:
chr9-34517465-A-G
Joint Max Group AF 0.00156856 (EAS)
Genomes Max Group AF 0.00076846 (EAS)
Exomes Max Group AF 0.0015907 (EAS)
ClinVar Allele:
312602
ClinVar RCV:
RCV000401036
ClinVar Variation:
366695
dbSNP:
560719255
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517465A>G , CM000671.2:g.34517465A>G GRCh38
NC_000009.11:g.34517463A>G , CM000671.1:g.34517463A>G GRCh37
NC_000009.10:g.34507463A>G NCBI36
NG_008127.1:g.63653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1999A>G MANE Select ENSP00000242317.4:p.Lys667Glu
ENST00000242317.8:c.1999A>G ENSP00000242317.4:p.Lys667Glu
ENST00000442556.1:c.329+2726A>G
ENST00000470169.5:c.787A>G
ENST00000485580.1:n.575A>G
ENST00000614641.4:c.2011A>G ENSP00000480538.1:p.Lys671Glu
NM_001281428.1:c.2011A>G NP_001268357.1:p.Lys671Glu
NM_012144.3:c.1999A>G NP_036276.1:p.Lys667Glu
XM_006716758.2:c.1468A>G XP_006716821.1:p.Lys490Glu
XM_011517848.1:c.1753A>G XP_011516150.1:p.Lys585Glu
XM_006716758.3:c.1468A>G XP_006716821.1:p.Lys490Glu
XM_011517848.2:c.1753A>G XP_011516150.1:p.Lys585Glu
XM_017014625.2:c.1741A>G XP_016870114.1:p.Lys581Glu
XR_002956774.1:n.2102A>G
NM_012144.4:c.1999A>G MANE Select NP_036276.1:p.Lys667Glu
NM_001281428.2:c.2011A>G NP_001268357.1:p.Lys671Glu
Search 100 bp 5'
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