Canonical Allele Identifier: CA275073

Gene: DBT

Linked Data

• ClinVar Variation Id: 195157
• ClinVar RCV Id: RCV000175709 ; RCV000724185
• dbSNP Id: rs794727262
• MyVariant Identifiers: chr1:g.100706366A>C (hg19) ; chr1:g.100240810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100240810A>C , CM000663.2:g.100240810A>C	GRCh38
NC_000001.10:g.100706366A>C , CM000663.1:g.100706366A>C	GRCh37
NC_000001.9:g.100478954A>C	NCBI36
NG_011852.2:g.14044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.126T>G	ENSP00000505544.1:p.Tyr42Ter
ENST00000681780.1:c.-418T>G	ENSP00000505780.1:n.-418T>G
ENST00000370131.3:c.126T>G	ENSP00000359150.3:p.Tyr42Ter
ENST00000370132.8:c.126T>G MANE Select	ENSP00000359151.3:p.Tyr42Ter
NM_001918.3:c.126T>G	NP_001909.3:p.Tyr42Ter
XM_005270545.2:c.-418T>G	XP_005270602.1:n.-418T>G
XR_946560.1:n.146T>G
XM_005270545.4:c.-418T>G	XP_005270602.1:n.-418T>G
XM_017000468.2:c.-418T>G	XP_016855957.1:n.-418T>G
XR_946560.3:n.143T>G
NM_001918.4:c.126T>G	NP_001909.3:p.Tyr42Ter
NM_001918.5:c.126T>G MANE Select	NP_001909.4:p.Tyr42Ter
NM_001399969.1:c.-418T>G	NP_001386898.1:n.-418T>G
NM_001399972.1:c.-418T>G	NP_001386901.1:n.-418T>G
NR_174363.1:n.140T>G
NR_174364.1:n.140T>G
NR_174365.1:n.140T>G
NR_174366.1:n.140T>G