Canonical Allele Identifier: CA400174687
Gene: DLX3 HGNC NCBI

Linked Data

gnomAD v4: 17-49991821-A-C
MyVariant Identifiers: chr17:g.48069185A>C (hg19) chr17:g.49991821A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49991821A>C , CM000679.2:g.49991821A>C GRCh38
NC_000017.10:g.48069185A>C , CM000679.1:g.48069185A>C GRCh37
NC_000017.9:g.45424184A>C NCBI36
NG_023063.1:g.8404T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000434704.2:c.560T>G MANE Select ENSP00000389870.2:p.Leu187Arg
ENST00000512495.2:c.200T>G ENSP00000449976.1:p.Leu67Arg
NM_005220.2:c.560T>G NP_005211.1:p.Leu187Arg
XM_011524458.1:c.516+1579T>G XP_011522760.1:n.516+1579T>G
NM_005220.3:c.560T>G MANE Select NP_005211.1:p.Leu187Arg
Search 100 bp 5'
Search 100 bp 3'