Canonical Allele Identifier: CA221902

Gene: DBT

Linked Data

• ClinVar Variation Id: 94014
• ClinVar RCV Id: RCV000179838 ; RCV004527311
• dbSNP Id: rs398123674
• gnomAD v4: 1-100214985-T-C
• MyVariant Identifiers: chr1:g.100680541T>C (hg19) ; chr1:g.100214985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214985T>C , CM000663.2:g.100214985T>C	GRCh38
NC_000001.10:g.100680541T>C , CM000663.1:g.100680541T>C	GRCh37
NC_000001.9:g.100453129T>C	NCBI36
NG_011852.2:g.39869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.773-2A>G	ENSP00000505544.1:n.773-2A>G
ENST00000681780.1:c.230-2A>G	ENSP00000505780.1:n.230-2A>G
ENST00000370131.3:c.773-2A>G	ENSP00000359150.3:n.773-2A>G
ENST00000370132.8:c.773-2A>G MANE Select	ENSP00000359151.3:n.773-2A>G
NM_001918.3:c.773-2A>G	NP_001909.3:n.773-2A>G
XM_005270545.2:c.230-2A>G	XP_005270602.1:n.230-2A>G
XM_005270546.2:c.230-2A>G	XP_005270603.1:n.230-2A>G
XR_946560.1:n.793-2A>G
XM_005270545.4:c.230-2A>G	XP_005270602.1:n.230-2A>G
XM_017000468.2:c.230-2A>G	XP_016855957.1:n.230-2A>G
XM_017000469.2:c.230-2A>G	XP_016855958.1:n.230-2A>G
XR_946560.3:n.790-2A>G
NM_001918.4:c.773-2A>G	NP_001909.3:n.773-2A>G
NM_001918.5:c.773-2A>G MANE Select	NP_001909.4:n.773-2A>G
NM_001399969.1:c.230-2A>G	NP_001386898.1:n.230-2A>G
NM_001399972.1:c.230-2A>G	NP_001386901.1:n.230-2A>G
NR_174363.1:n.605-2A>G
NR_174364.1:n.787-2A>G
NR_174365.1:n.570-2A>G
NR_174366.1:n.787-2A>G