Canonical Allele Identifier: CA147537

Gene: DBT

Linked Data

• ClinVar Variation Id: 94013
• ClinVar RCV Id: RCV000079955 ; RCV000873037 ; RCV001703991
• dbSNP Id: rs145674833
• ExAC: 1:100706416 A / G
• gnomAD v2: 1-100706416-A-G
• gnomAD v3: 1-100240860-A-G
• gnomAD v4: 1-100240860-A-G
• MyVariant Identifiers: chr1:g.100706416A>G (hg19) ; chr1:g.100240860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100240860A>G , CM000663.2:g.100240860A>G	GRCh38
NC_000001.10:g.100706416A>G , CM000663.1:g.100706416A>G	GRCh37
NC_000001.9:g.100479004A>G	NCBI36
NG_011852.2:g.13994T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.76T>C	ENSP00000505544.1:p.Cys26Arg
ENST00000681780.1:c.-468T>C	ENSP00000505780.1:n.-468T>C
ENST00000370131.3:c.76T>C	ENSP00000359150.3:p.Cys26Arg
ENST00000370132.8:c.76T>C MANE Select	ENSP00000359151.3:p.Cys26Arg
NM_001918.3:c.76T>C	NP_001909.3:p.Cys26Arg
XM_005270545.2:c.-468T>C	XP_005270602.1:n.-468T>C
XR_946560.1:n.96T>C
XM_005270545.4:c.-468T>C	XP_005270602.1:n.-468T>C
XM_017000468.2:c.-468T>C	XP_016855957.1:n.-468T>C
XR_946560.3:n.93T>C
NM_001918.4:c.76T>C	NP_001909.3:p.Cys26Arg
NM_001918.5:c.76T>C MANE Select	NP_001909.4:p.Cys26Arg
NM_001399969.1:c.-468T>C	NP_001386898.1:n.-468T>C
NM_001399972.1:c.-468T>C	NP_001386901.1:n.-468T>C
NR_174363.1:n.90T>C
NR_174364.1:n.90T>C
NR_174365.1:n.90T>C
NR_174366.1:n.90T>C