Canonical Allele Identifier: CA233879

Gene: DBT

Linked Data

• ClinVar Variation Id: 166984
• ClinVar RCV Id: RCV000153139 ; RCV002516075
• dbSNP Id: rs727503896
• ExAC: 1:100696357 T / C
• gnomAD v2: 1-100696357-T-C
• gnomAD v3: 1-100230801-T-C
• gnomAD v4: 1-100230801-T-C
• MyVariant Identifiers: chr1:g.100696357T>C (hg19) ; chr1:g.100696357_100696359delinsCAG (hg19) ; chr1:g.100230801T>C (hg38) ; chr1:g.100230801_100230803delinsCAG (hg38)

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