Canonical Allele Identifier: CA275251
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 197203
ClinVar RCV Id: RCV000178173
dbSNP Id: rs794727635
MyVariant Identifiers: chr1:g.100696288C>A (hg19) chr1:g.100230732C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100230732C>A , CM000663.2:g.100230732C>A GRCh38
NC_000001.10:g.100696288C>A , CM000663.1:g.100696288C>A GRCh37
NC_000001.9:g.100468876C>A NCBI36
NG_011852.2:g.24122G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.433+1G>T ENSP00000505544.1:n.433+1G>T
ENST00000681780.1:c.-111+1G>T ENSP00000505780.1:n.-111+1G>T
ENST00000370131.3:c.433+1G>T ENSP00000359150.3:n.433+1G>T
ENST00000370132.8:c.433+1G>T MANE Select ENSP00000359151.3:n.433+1G>T
NM_001918.3:c.433+1G>T NP_001909.3:n.433+1G>T
XM_005270545.2:c.-111+1G>T XP_005270602.1:n.-111+1G>T
XM_005270546.2:c.-111+4704G>T XP_005270603.1:n.-111+4704G>T
XR_946560.1:n.453+1G>T
XM_005270545.4:c.-111+1G>T XP_005270602.1:n.-111+1G>T
XM_017000468.2:c.-111+1G>T XP_016855957.1:n.-111+1G>T
XM_017000469.2:c.-111+4704G>T XP_016855958.1:n.-111+4704G>T
XR_946560.3:n.450+1G>T
NM_001918.4:c.433+1G>T NP_001909.3:n.433+1G>T
NM_001918.5:c.433+1G>T MANE Select NP_001909.4:n.433+1G>T
NM_001399969.1:c.-111+1G>T NP_001386898.1:n.-111+1G>T
NM_001399972.1:c.-111+1G>T NP_001386901.1:n.-111+1G>T
NR_174363.1:n.265+4704G>T
NR_174364.1:n.447+1G>T
NR_174365.1:n.447+1G>T
NR_174366.1:n.447+1G>T
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