Canonical Allele Identifier: CA291506285
Gene: DLX3 HGNC NCBI

Linked Data

dbSNP Id: rs895851859
gnomAD v4: 17-49991722-G-A
MyVariant Identifiers: chr17:g.48069086G>A (hg19) chr17:g.49991722G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49991722G>A , CM000679.2:g.49991722G>A GRCh38
NC_000017.10:g.48069086G>A , CM000679.1:g.48069086G>A GRCh37
NC_000017.9:g.45424085G>A NCBI36
NG_023063.1:g.8503C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434704.2:c.659C>T MANE Select ENSP00000389870.2:p.Ser220Phe
ENST00000512495.2:c.299C>T ENSP00000449976.1:p.Ser100Phe
NM_005220.2:c.659C>T NP_005211.1:p.Ser220Phe
XM_011524458.1:c.516+1678C>T XP_011522760.1:n.516+1678C>T
NM_005220.3:c.659C>T MANE Select NP_005211.1:p.Ser220Phe
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