Canonical Allele Identifier: CA205366

Gene: DBT

Linked Data

• ClinVar Variation Id: 210824
• ClinVar RCV Id: RCV000192508 ; RCV000322581 ; RCV000756009 ; RCV003917747
• dbSNP Id: rs138796800
• ExAC: 1:100696395 G / A
• gnomAD v2: 1-100696395-G-A
• gnomAD v3: 1-100230839-G-A
• gnomAD v4: 1-100230839-G-A
• MyVariant Identifiers: chr1:g.100696395G>A (hg19) ; chr1:g.100230839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230839G>A , CM000663.2:g.100230839G>A	GRCh38
NC_000001.10:g.100696395G>A , CM000663.1:g.100696395G>A	GRCh37
NC_000001.9:g.100468983G>A	NCBI36
NG_011852.2:g.24015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.327C>T	ENSP00000505544.1:p.Thr109=
ENST00000681780.1:c.-217C>T	ENSP00000505780.1:n.-217C>T
ENST00000370131.3:c.327C>T	ENSP00000359150.3:p.Thr109=
ENST00000370132.8:c.327C>T MANE Select	ENSP00000359151.3:p.Thr109=
NM_001918.3:c.327C>T	NP_001909.3:p.Thr109=
XM_005270545.2:c.-217C>T	XP_005270602.1:n.-217C>T
XM_005270546.2:c.-111+4597C>T	XP_005270603.1:n.-111+4597C>T
XR_946560.1:n.347C>T
XM_005270545.4:c.-217C>T	XP_005270602.1:n.-217C>T
XM_017000468.2:c.-217C>T	XP_016855957.1:n.-217C>T
XM_017000469.2:c.-111+4597C>T	XP_016855958.1:n.-111+4597C>T
XR_946560.3:n.344C>T
NM_001918.4:c.327C>T	NP_001909.3:p.Thr109=
NM_001918.5:c.327C>T MANE Select	NP_001909.4:p.Thr109=
NM_001399969.1:c.-217C>T	NP_001386898.1:n.-217C>T
NM_001399972.1:c.-217C>T	NP_001386901.1:n.-217C>T
NR_174363.1:n.265+4597C>T
NR_174364.1:n.341C>T
NR_174365.1:n.341C>T
NR_174366.1:n.341C>T