Canonical Allele Identifier: CA969544

Gene: DBT

Linked Data

• ClinVar Variation Id: 291453
• ClinVar RCV Id: RCV000366487
• dbSNP Id: rs751951997
• ExAC: 1:100671868 A / T
• gnomAD v2: 1-100671868-A-T
• gnomAD v3: 1-100206312-A-T
• gnomAD v4: 1-100206312-A-T
• MyVariant Identifiers: chr1:g.100671868A>T (hg19) ; chr1:g.100206312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206312A>T , CM000663.2:g.100206312A>T	GRCh38
NC_000001.10:g.100671868A>T , CM000663.1:g.100671868A>T	GRCh37
NC_000001.9:g.100444456A>T	NCBI36
NG_011852.2:g.48542T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.1336-11T>A	ENSP00000505544.1:n.1336-11T>A
ENST00000681780.1:c.667-11T>A	ENSP00000505780.1:n.667-11T>A
ENST00000370132.8:c.1210-11T>A MANE Select	ENSP00000359151.3:n.1210-11T>A
NM_001918.3:c.1210-11T>A	NP_001909.3:n.1210-11T>A
XM_005270545.2:c.667-11T>A	XP_005270602.1:n.667-11T>A
XM_005270546.2:c.667-11T>A	XP_005270603.1:n.667-11T>A
XM_005270545.4:c.667-11T>A	XP_005270602.1:n.667-11T>A
XM_017000468.2:c.667-11T>A	XP_016855957.1:n.667-11T>A
XM_017000469.2:c.667-11T>A	XP_016855958.1:n.667-11T>A
NM_001918.4:c.1210-11T>A	NP_001909.3:n.1210-11T>A
NM_001918.5:c.1210-11T>A MANE Select	NP_001909.4:n.1210-11T>A
NM_001399969.1:c.667-11T>A	NP_001386898.1:n.667-11T>A
NM_001399972.1:c.667-11T>A	NP_001386901.1:n.667-11T>A
NR_174363.1:n.1042-11T>A
NR_174364.1:n.1224-11T>A
NR_174365.1:n.1007-11T>A
NR_174366.1:n.1309-11T>A