Canonical Allele Identifier: CA147537
Gene: DBT HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.100240860A>G
GRCh37 chr1:g.100706416A>G
Revel Score:
ENST00000370132 (MANE Select) 0.047
ENST00000370131 0.047
gnomAD v2:
1:100706416 A / G
gnomAD v3:
1:100240860 A / G
gnomAD v4:
chr1-100240860-A-G
Joint Max Group AF 0.00842019 (AFR)
Genomes Max Group AF 0.00877253 (AFR)
Exomes Max Group AF 0.00747947 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100240860A>G , CM000663.2:g.100240860A>G GRCh38
NC_000001.10:g.100706416A>G , CM000663.1:g.100706416A>G GRCh37
NC_000001.9:g.100479004A>G NCBI36
NG_011852.2:g.13994T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.76T>C ENSP00000505544.1:p.Cys26Arg
ENST00000681780.1:c.-468T>C ENSP00000505780.1:n.-468T>C
ENST00000370131.3:c.76T>C ENSP00000359150.3:p.Cys26Arg
ENST00000370132.8:c.76T>C MANE Select ENSP00000359151.3:p.Cys26Arg
NM_001918.3:c.76T>C NP_001909.3:p.Cys26Arg
XM_005270545.2:c.-468T>C XP_005270602.1:n.-468T>C
XR_946560.1:n.96T>C
XM_005270545.4:c.-468T>C XP_005270602.1:n.-468T>C
XM_017000468.2:c.-468T>C XP_016855957.1:n.-468T>C
XR_946560.3:n.93T>C
NM_001918.4:c.76T>C NP_001909.3:p.Cys26Arg
NM_001918.5:c.76T>C MANE Select NP_001909.4:p.Cys26Arg
NM_001399969.1:c.-468T>C NP_001386898.1:n.-468T>C
NM_001399972.1:c.-468T>C NP_001386901.1:n.-468T>C
NR_174363.1:n.90T>C
NR_174364.1:n.90T>C
NR_174365.1:n.90T>C
NR_174366.1:n.90T>C
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