Canonical Allele Identifier: CA152551

Gene: DBT

Linked Data

• ClinVar Variation Id: 128885
• ClinVar RCV Id: RCV000116865 ; RCV001000210
• dbSNP Id: rs12021720
• ExAC: 1:100672060 T / C
• gnomAD v2: 1-100672060-T-C
• gnomAD v3: 1-100206504-T-C
• gnomAD v4: 1-100206504-T-C
• MyVariant Identifiers: chr1:g.100672060T>C (hg19) ; chr1:g.100206504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206504T>C , CM000663.2:g.100206504T>C	GRCh38
NC_000001.10:g.100672060T>C , CM000663.1:g.100672060T>C	GRCh37
NC_000001.9:g.100444648T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.1276A>G	ENSP00000505544.1:p.Ser426Gly
ENST00000681780.1:c.607A>G	ENSP00000505780.1:p.Ser203Gly
ENST00000370132.8:c.1150A>G MANE Select	ENSP00000359151.3:p.Ser384Gly
XM_005270545.2:c.607A>G	XP_005270602.1:p.Ser203Gly
XM_005270546.2:c.607A>G	XP_005270603.1:p.Ser203Gly
XM_005270545.4:c.607A>G	XP_005270602.1:p.Ser203Gly
XM_017000468.2:c.607A>G	XP_016855957.1:p.Ser203Gly
XM_017000469.2:c.607A>G	XP_016855958.1:p.Ser203Gly
NM_001918.5:c.1150A>G MANE Select	NP_001909.4:p.Ser384Gly
NM_001399969.1:c.607A>G	NP_001386898.1:p.Ser203Gly
NM_001399972.1:c.607A>G	NP_001386901.1:p.Ser203Gly
NR_174363.1:n.982A>G
NR_174364.1:n.1164A>G
NR_174365.1:n.947A>G
NR_174366.1:n.1249A>G