Canonical Allele Identifier: CA543251623
Community Standard Title: NM_004944.4(DNASE1L3):c.433+8C>G
Gene: DNASE1L3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58204761G>C , CM000665.2:g.58204761G>C GRCh38
NC_000003.11:g.58190488G>C , CM000665.1:g.58190488G>C GRCh37
NC_000003.10:g.58165528G>C NCBI36
NG_032070.1:g.11243C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004944.4:c.433+8C>G MANE Select NP_004935.1:n.433+8C>G
ENST00000394549.7:c.433+8C>G MANE Select ENSP00000378053.2:n.433+8C>G
NM_001256560.1:c.343+8C>G NP_001243489.1:n.343+8C>G
NM_001256560.2:c.343+8C>G NP_001243489.1:n.343+8C>G
NM_004944.3:c.433+8C>G NP_004935.1:n.433+8C>G
ENST00000394549.6:c.433+8C>G ENSP00000378053.2:n.433+8C>G
ENST00000461914.7:c.433+8C>G ENSP00000418113.3:n.433+8C>G
ENST00000477209.5:c.55+8C>G ENSP00000417976.1:n.55+8C>G
ENST00000483681.5:c.433+8C>G ENSP00000417047.1:n.433+8C>G
ENST00000486455.5:c.343+8C>G ENSP00000419052.1:n.343+8C>G