Canonical Allele Identifier: CA10441913
Gene: DLG3 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.70445452C>T
GRCh37 chrX:g.69665302C>T
Revel Score:
ENST00000194900 0.084
ENST00000374360 (MANE Select) 0.084
gnomAD v2:
X:69665302 C / T
gnomAD v3:
X:70445452 C / T
gnomAD v4:
chrX-70445452-C-T
Joint Max Group AF 0.00001388 (AFR)
Genomes Max Group AF 0.00002551 (AFR)
Exomes Max Group AF 0.00000865 (NFE)
ClinVar RCV:
RCV001730060
ClinVar Variation:
1299587
dbSNP:
374006597
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70445452C>T , CM000685.2:g.70445452C>T GRCh38
NC_000023.10:g.69665302C>T , CM000685.1:g.69665302C>T GRCh37
NC_000023.9:g.69582027C>T NCBI36
NG_015849.1:g.5598C>T
NG_015849.2:g.5598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374360.8:c.251C>T MANE Select ENSP00000363480.3:p.Pro84Leu
ENST00000194900.8:c.251C>T ENSP00000194900.4:p.Pro84Leu
ENST00000374360.7:c.251C>T ENSP00000363480.3:p.Pro84Leu
ENST00000463252.5:n.317C>T
NM_021120.3:c.251C>T NP_066943.2:p.Pro84Leu
XM_006724625.2:c.251C>T XP_006724688.1:p.Pro84Leu
XM_006724626.2:c.251C>T XP_006724689.1:p.Pro84Leu
XM_011530883.1:c.251C>T XP_011529185.1:p.Pro84Leu
NM_021120.4:c.251C>T MANE Select NP_066943.2:p.Pro84Leu
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