Canonical Allele Identifier: CA969643

Gene: DBT

Linked Data

• ClinVar Variation Id: 437447
• ClinVar RCV Id: RCV000503792 ; RCV003488640
• dbSNP Id: rs770981889
• ExAC: 1:100680410 C / T
• gnomAD v2: 1-100680410-C-T
• gnomAD v3: 1-100214854-C-T
• gnomAD v4: 1-100214854-C-T
• MyVariant Identifiers: chr1:g.100680410C>T (hg19) ; chr1:g.100214854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214854C>T , CM000663.2:g.100214854C>T	GRCh38
NC_000001.10:g.100680410C>T , CM000663.1:g.100680410C>T	GRCh37
NC_000001.9:g.100452998C>T	NCBI36
NG_011852.2:g.40000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.902G>A	ENSP00000505544.1:p.Arg301His
ENST00000681780.1:c.359G>A	ENSP00000505780.1:p.Arg120His
ENST00000370131.3:c.902G>A	ENSP00000359150.3:p.Arg301His
ENST00000370132.8:c.902G>A MANE Select	ENSP00000359151.3:p.Arg301His
NM_001918.3:c.902G>A	NP_001909.3:p.Arg301His
XM_005270545.2:c.359G>A	XP_005270602.1:p.Arg120His
XM_005270546.2:c.359G>A	XP_005270603.1:p.Arg120His
XR_946560.1:n.922G>A
XM_005270545.4:c.359G>A	XP_005270602.1:p.Arg120His
XM_017000468.2:c.359G>A	XP_016855957.1:p.Arg120His
XM_017000469.2:c.359G>A	XP_016855958.1:p.Arg120His
XR_946560.3:n.919G>A
NM_001918.4:c.902G>A	NP_001909.3:p.Arg301His
NM_001918.5:c.902G>A MANE Select	NP_001909.4:p.Arg301His
NM_001399969.1:c.359G>A	NP_001386898.1:p.Arg120His
NM_001399972.1:c.359G>A	NP_001386901.1:p.Arg120His
NR_174363.1:n.734G>A
NR_174364.1:n.916G>A
NR_174365.1:n.699G>A
NR_174366.1:n.916G>A