Canonical Allele Identifier: CA10607159
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 291402
ClinVar RCV Id: RCV000378262
dbSNP Id: rs749879959
gnomAD v3: 1-100190664-A-G
gnomAD v4: 1-100190664-A-G
MyVariant Identifiers: chr1:g.100656220A>G (hg19) chr1:g.100190664A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100190664A>G , CM000663.2:g.100190664A>G GRCh38
NC_000001.10:g.100656220A>G , CM000663.1:g.100656220A>G GRCh37
NC_000001.9:g.100428808A>G NCBI36
NG_011852.2:g.64190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370132.8:c.*5591T>C MANE Select ENSP00000359151.3:n.*5591T>C
NM_001918.3:c.*5591T>C NP_001909.3:n.*5591T>C
NM_001918.4:c.*5591T>C NP_001909.3:n.*5591T>C
NM_001918.5:c.*5591T>C MANE Select NP_001909.4:n.*5591T>C
NM_001399969.1:c.*5591T>C NP_001386898.1:n.*5591T>C
NM_001399972.1:c.*5591T>C NP_001386901.1:n.*5591T>C
NR_174363.1:n.6872T>C
NR_174364.1:n.7213T>C
NR_174365.1:n.6837T>C
NR_174366.1:n.7139T>C
Search 100 bp 5'
Search 100 bp 3'