Canonical Allele Identifier: CA10640035
Gene: DLX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 324028
ClinVar RCV Id: RCV000404262 RCV001618568
dbSNP Id: rs2278163
gnomAD v2: 17-48072426-G-A
gnomAD v3: 17-49995062-G-A
gnomAD v4: 17-49995062-G-A
MyVariant Identifiers: chr17:g.48072426G>A (hg19) chr17:g.49995062G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49995062G>A , CM000679.2:g.49995062G>A GRCh38
NC_000017.10:g.48072426G>A , CM000679.1:g.48072426G>A GRCh37
NC_000017.9:g.45427425G>A NCBI36
NG_023063.1:g.5163C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000434704.2:c.-64C>T MANE Select ENSP00000389870.2:n.-64C>T
NM_005220.2:c.-64C>T NP_005211.1:n.-64C>T
XM_011524458.1:c.-64C>T XP_011522760.1:n.-64C>T
NM_005220.3:c.-64C>T MANE Select NP_005211.1:n.-64C>T
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