Canonical Allele Identifier: CA2499214072

Gene: DBT

Linked Data

• ClinVar Variation Id: 1159211
• ClinVar RCV Id: RCV001502881
• dbSNP Id: rs2100779244

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206220A>G , CM000663.2:g.100206220A>G	GRCh38
NC_000001.10:g.100671776A>G , CM000663.1:g.100671776A>G	GRCh37
NC_000001.9:g.100444364A>G	NCBI36
NG_011852.2:g.48634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.1407+10T>C	ENSP00000505544.1:n.1407+10T>C
ENST00000681780.1:c.738+10T>C	ENSP00000505780.1:n.738+10T>C
ENST00000370132.8:c.1281+10T>C MANE Select	ENSP00000359151.3:n.1281+10T>C
NM_001918.3:c.1281+10T>C	NP_001909.3:n.1281+10T>C
XM_005270545.2:c.738+10T>C	XP_005270602.1:n.738+10T>C
XM_005270546.2:c.738+10T>C	XP_005270603.1:n.738+10T>C
XM_005270545.4:c.738+10T>C	XP_005270602.1:n.738+10T>C
XM_017000468.2:c.738+10T>C	XP_016855957.1:n.738+10T>C
XM_017000469.2:c.738+10T>C	XP_016855958.1:n.738+10T>C
NM_001918.4:c.1281+10T>C	NP_001909.3:n.1281+10T>C
NM_001918.5:c.1281+10T>C MANE Select	NP_001909.4:n.1281+10T>C
NM_001399969.1:c.738+10T>C	NP_001386898.1:n.738+10T>C
NM_001399972.1:c.738+10T>C	NP_001386901.1:n.738+10T>C
NR_174363.1:n.1113+10T>C
NR_174364.1:n.1295+10T>C
NR_174365.1:n.1078+10T>C
NR_174366.1:n.1380+10T>C