Canonical Allele Identifier: CA969791

Gene: DBT

Linked Data

• dbSNP Id: rs528325102
• ExAC: 1:100700941 T / A
• gnomAD v2: 1-100700941-T-A
• gnomAD v3: 1-100235385-T-A
• gnomAD v4: 1-100235385-T-A
• MyVariant Identifiers: chr1:g.100700941T>A (hg19) ; chr1:g.100235385T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235385T>A , CM000663.2:g.100235385T>A	GRCh38
NC_000001.10:g.100700941T>A , CM000663.1:g.100700941T>A	GRCh37
NC_000001.9:g.100473529T>A	NCBI36
NG_011852.2:g.19469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.251+51A>T	ENSP00000505544.1:n.251+51A>T
ENST00000681780.1:c.-293+51A>T	ENSP00000505780.1:n.-293+51A>T
ENST00000370131.3:c.251+51A>T	ENSP00000359150.3:n.251+51A>T
ENST00000370132.8:c.251+51A>T MANE Select	ENSP00000359151.3:n.251+51A>T
NM_001918.3:c.251+51A>T	NP_001909.3:n.251+51A>T
XM_005270545.2:c.-293+51A>T	XP_005270602.1:n.-293+51A>T
XM_005270546.2:c.-111+51A>T	XP_005270603.1:n.-111+51A>T
XR_946560.1:n.271+51A>T
XM_005270545.4:c.-293+51A>T	XP_005270602.1:n.-293+51A>T
XM_017000468.2:c.-293+51A>T	XP_016855957.1:n.-293+51A>T
XM_017000469.2:c.-111+51A>T	XP_016855958.1:n.-111+51A>T
XR_946560.3:n.268+51A>T
NM_001918.4:c.251+51A>T	NP_001909.3:n.251+51A>T
NM_001918.5:c.251+51A>T MANE Select	NP_001909.4:n.251+51A>T
NM_001399969.1:c.-293+51A>T	NP_001386898.1:n.-293+51A>T
NM_001399972.1:c.-293+51A>T	NP_001386901.1:n.-293+51A>T
NR_174363.1:n.265+51A>T
NR_174364.1:n.265+51A>T
NR_174365.1:n.265+51A>T
NR_174366.1:n.265+51A>T