Canonical Allele Identifier: CA10607145
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 291389
ClinVar RCV Id: RCV000278449
dbSNP Id: rs182980145
gnomAD v2: 1-100654504-C-G
gnomAD v3: 1-100188948-C-G
gnomAD v4: 1-100188948-C-G
MyVariant Identifiers: chr1:g.100654504C>G (hg19) chr1:g.100188948C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100188948C>G , CM000663.2:g.100188948C>G GRCh38
NC_000001.10:g.100654504C>G , CM000663.1:g.100654504C>G GRCh37
NC_000001.9:g.100427092C>G NCBI36
NG_011852.2:g.65906G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370132.8:c.*7307G>C MANE Select ENSP00000359151.3:n.*7307G>C
NM_001918.3:c.*7307G>C NP_001909.3:n.*7307G>C
NM_001918.4:c.*7307G>C NP_001909.3:n.*7307G>C
NM_001918.5:c.*7307G>C MANE Select NP_001909.4:n.*7307G>C
NM_001399969.1:c.*7307G>C NP_001386898.1:n.*7307G>C
NM_001399972.1:c.*7307G>C NP_001386901.1:n.*7307G>C
NR_174363.1:n.8588G>C
NR_174364.1:n.8929G>C
NR_174365.1:n.8553G>C
NR_174366.1:n.8855G>C
Search 100 bp 5'
Search 100 bp 3'