Canonical Allele Identifier: CA10442073
Gene: DLG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 434948
ClinVar RCV Id: RCV000502437 RCV002464216
dbSNP Id: rs749973560
ExAC: X:69671869 T / C
gnomAD v2: X-69671869-T-C
gnomAD v3: X-70452019-T-C
gnomAD v4: X-70452019-T-C
MyVariant Identifiers: chrX:g.69671869T>C (hg19) chrX:g.70452019T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70452019T>C , CM000685.2:g.70452019T>C GRCh38
NC_000023.10:g.69671869T>C , CM000685.1:g.69671869T>C GRCh37
NC_000023.9:g.69588594T>C NCBI36
NG_015849.1:g.12165T>C
NG_015849.2:g.12165T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374360.8:c.1138T>C MANE Select ENSP00000363480.3:p.Phe380Leu
ENST00000194900.8:c.1192T>C ENSP00000194900.4:p.Phe398Leu
ENST00000374360.7:c.1138T>C ENSP00000363480.3:p.Phe380Leu
ENST00000463252.5:n.1537T>C
NM_021120.3:c.1138T>C NP_066943.2:p.Phe380Leu
XM_006724625.2:c.1138T>C XP_006724688.1:p.Phe380Leu
XM_006724626.2:c.1138T>C XP_006724689.1:p.Phe380Leu
XM_011530883.1:c.1138T>C XP_011529185.1:p.Phe380Leu
NM_021120.4:c.1138T>C MANE Select NP_066943.2:p.Phe380Leu
Search 100 bp 5'
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