Canonical Allele Identifier: CA969539

Gene: DBT

Linked Data

• ClinVar Variation Id: 516771
• ClinVar RCV Id: RCV000910455 ; RCV001704808
• dbSNP Id: rs535837017
• ExAC: 1:100671865 T / A
• gnomAD v2: 1-100671865-T-A
• gnomAD v3: 1-100206309-T-A
• gnomAD v4: 1-100206309-T-A
• MyVariant Identifiers: chr1:g.100671865T>A (hg19) ; chr1:g.100671865_100671875delinsATAAAAAAAAA (hg19) ; chr1:g.100206309T>A (hg38) ; chr1:g.100206309_100206319delinsATAAAAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206309T>A , CM000663.2:g.100206309T>A	GRCh38
NC_000001.10:g.100671865T>A , CM000663.1:g.100671865T>A	GRCh37
NC_000001.9:g.100444453T>A	NCBI36
NG_011852.2:g.48545A>T

Transcript Alleles

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