Canonical Allele Identifier: CA121797

Gene: DBT

Linked Data

• ClinVar Variation Id: 11943
• ClinVar RCV Id: RCV000079957 ; RCV000179835 ; RCV002251898 ; RCV003581558
• dbSNP Id: rs121964999
• ExAC: 1:100680485 A / C
• gnomAD v2: 1-100680485-A-C
• gnomAD v3: 1-100214929-A-C
• gnomAD v4: 1-100214929-A-C
• MyVariant Identifiers: chr1:g.100680485A>C (hg19) ; chr1:g.100214929A>C (hg38)
• PubMed: PMID:1847055

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214929A>C , CM000663.2:g.100214929A>C	GRCh38
NC_000001.10:g.100680485A>C , CM000663.1:g.100680485A>C	GRCh37
NC_000001.9:g.100453073A>C	NCBI36
NG_011852.2:g.39925T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.827T>G	ENSP00000505544.1:p.Phe276Cys
ENST00000681780.1:c.284T>G	ENSP00000505780.1:p.Phe95Cys
ENST00000370131.3:c.827T>G	ENSP00000359150.3:p.Phe276Cys
ENST00000370132.8:c.827T>G MANE Select	ENSP00000359151.3:p.Phe276Cys
NM_001918.3:c.827T>G	NP_001909.3:p.Phe276Cys
XM_005270545.2:c.284T>G	XP_005270602.1:p.Phe95Cys
XM_005270546.2:c.284T>G	XP_005270603.1:p.Phe95Cys
XR_946560.1:n.847T>G
XM_005270545.4:c.284T>G	XP_005270602.1:p.Phe95Cys
XM_017000468.2:c.284T>G	XP_016855957.1:p.Phe95Cys
XM_017000469.2:c.284T>G	XP_016855958.1:p.Phe95Cys
XR_946560.3:n.844T>G
NM_001918.4:c.827T>G	NP_001909.3:p.Phe276Cys
NM_001918.5:c.827T>G MANE Select	NP_001909.4:p.Phe276Cys
NM_001399969.1:c.284T>G	NP_001386898.1:p.Phe95Cys
NM_001399972.1:c.284T>G	NP_001386901.1:p.Phe95Cys
NR_174363.1:n.659T>G
NR_174364.1:n.841T>G
NR_174365.1:n.624T>G
NR_174366.1:n.841T>G