Canonical Allele Identifier: CA233879
Gene: DBT HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.100230801T>C
GRCh38 chr1:g.100230801_100230803delinsCAG
GRCh37 chr1:g.100696357T>C
GRCh37 chr1:g.100696357_100696359delinsCAG
Revel Score:
ENST00000370132 (MANE Select) 0.275
ENST00000370131 0.275
gnomAD v2:
1:100696357 T / C
gnomAD v3:
1:100230801 T / C
gnomAD v4:
chr1-100230801-T-C
Joint Max Group AF 0.00001747 (AFR)
Exomes Max Group AF 0.00002381 (AFR)
ClinVar Allele:
176923
ClinVar RCV:
RCV000153139
RCV002516075
ClinVar Variation:
166984
dbSNP:
727503896
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100230801T>C , CM000663.2:g.100230801T>C GRCh38
NC_000001.10:g.100696357T>C , CM000663.1:g.100696357T>C GRCh37
NC_000001.9:g.100468945T>C NCBI36
NG_011852.2:g.24053A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.365A>G ENSP00000505544.1:p.Tyr122Cys
ENST00000681780.1:c.-179A>G ENSP00000505780.1:n.-179A>G
ENST00000370131.3:c.365A>G ENSP00000359150.3:p.Tyr122Cys
ENST00000370132.8:c.365A>G MANE Select ENSP00000359151.3:p.Tyr122Cys
NM_001918.3:c.365A>G NP_001909.3:p.Tyr122Cys
XM_005270545.2:c.-179A>G XP_005270602.1:n.-179A>G
XM_005270546.2:c.-111+4635A>G XP_005270603.1:n.-111+4635A>G
XR_946560.1:n.385A>G
XM_005270545.4:c.-179A>G XP_005270602.1:n.-179A>G
XM_017000468.2:c.-179A>G XP_016855957.1:n.-179A>G
XM_017000469.2:c.-111+4635A>G XP_016855958.1:n.-111+4635A>G
XR_946560.3:n.382A>G
NM_001918.4:c.365A>G NP_001909.3:p.Tyr122Cys
NM_001918.5:c.365A>G MANE Select NP_001909.4:p.Tyr122Cys
NM_001399969.1:c.-179A>G NP_001386898.1:n.-179A>G
NM_001399972.1:c.-179A>G NP_001386901.1:n.-179A>G
NR_174363.1:n.265+4635A>G
NR_174364.1:n.379A>G
NR_174365.1:n.379A>G
NR_174366.1:n.379A>G
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