Canonical Allele Identifier: CA10622977
Gene: DLD HGNC NCBI

Linked Data

ClinVar Variation Id: 358586
ClinVar RCV Id: RCV000300180 RCV000339878 RCV000399965
dbSNP Id: rs546777301
gnomAD v2: 7-107560796-C-T
gnomAD v3: 7-107920351-C-T
gnomAD v4: 7-107920351-C-T
MyVariant Identifiers: chr7:g.107560796C>T (hg19) chr7:g.107920351C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107920351C>T , CM000669.2:g.107920351C>T GRCh38
NC_000007.13:g.107560796C>T , CM000669.1:g.107560796C>T GRCh37
NC_000007.12:g.107348032C>T NCBI36
NG_008045.1:g.34211C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000205402.10:c.*1092C>T MANE Select ENSP00000205402.3:n.*1092C>T
ENST00000205402.9:c.*1092C>T ENSP00000205402.3:n.*1092C>T
ENST00000417551.5:c.*124+968C>T ENSP00000390667.1:n.*124+968C>T
NM_000108.4:c.*1092C>T NP_000099.2:n.*1092C>T
NM_001289750.1:c.*1092C>T NP_001276679.1:n.*1092C>T
NM_001289751.1:c.*1092C>T NP_001276680.1:n.*1092C>T
NM_001289752.1:c.*1092C>T NP_001276681.1:n.*1092C>T
NM_000108.5:c.*1092C>T MANE Select NP_000099.2:n.*1092C>T
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