Canonical Allele Identifier: CA400174006
Gene: DLX3 HGNC NCBI

Linked Data

dbSNP Id: rs773054749
gnomAD v2: 17-48069097-C-G
gnomAD v3: 17-49991733-C-G
gnomAD v4: 17-49991733-C-G
MyVariant Identifiers: chr17:g.48069097C>G (hg19) chr17:g.49991733C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49991733C>G , CM000679.2:g.49991733C>G GRCh38
NC_000017.10:g.48069097C>G , CM000679.1:g.48069097C>G GRCh37
NC_000017.9:g.45424096C>G NCBI36
NG_023063.1:g.8492G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000434704.2:c.648G>C MANE Select ENSP00000389870.2:p.Trp216Cys
ENST00000512495.2:c.288G>C ENSP00000449976.1:p.Trp96Cys
NM_005220.2:c.648G>C NP_005211.1:p.Trp216Cys
XM_011524458.1:c.516+1667G>C XP_011522760.1:n.516+1667G>C
NM_005220.3:c.648G>C MANE Select NP_005211.1:p.Trp216Cys
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