Canonical Allele Identifier: CA2469910
Gene: DNASE1L3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.58197909G>C
GRCh37 chr3:g.58183636G>C
Revel Score:
ENST00000486455 0.895
ENST00000450710 0.895
ENST00000318316 0.895
ENST00000483681 0.895
ENST00000477209 0.895
ENST00000394549 (MANE Select) 0.895
dbSNP:
35677470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58197909G>C , CM000665.2:g.58197909G>C GRCh38
NC_000003.11:g.58183636G>C , CM000665.1:g.58183636G>C GRCh37
NC_000003.10:g.58158676G>C NCBI36
NG_032070.1:g.18095C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394549.7:c.616C>G MANE Select ENSP00000378053.2:p.Arg206Gly
ENST00000394549.6:c.616C>G ENSP00000378053.2:p.Arg206Gly
ENST00000477209.5:c.238C>G ENSP00000417976.1:p.Arg80Gly
ENST00000483681.5:c.616C>G ENSP00000417047.1:p.Arg206Gly
ENST00000486455.5:c.526C>G ENSP00000419052.1:p.Arg176Gly
NM_001256560.1:c.526C>G NP_001243489.1:p.Arg176Gly
NM_004944.3:c.616C>G NP_004935.1:p.Arg206Gly
NM_004944.4:c.616C>G MANE Select NP_004935.1:p.Arg206Gly
NM_001256560.2:c.526C>G NP_001243489.1:p.Arg176Gly
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