Canonical Allele Identifier: CA969539
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 516771
dbSNP Id: rs535837017

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100206309T>A , CM000663.2:g.100206309T>A GRCh38
NC_000001.10:g.100671865T>A , CM000663.1:g.100671865T>A GRCh37
NC_000001.9:g.100444453T>A NCBI36
NG_011852.2:g.48545A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.1336-8A>T ENSP00000505544.1:p.=
ENST00000681780.1:c.667-8A>T ENSP00000505780.1:p.=
ENST00000370132.8:c.1210-8A>T MANE Select ENSP00000359151.3:p.=
NM_001918.3:c.1210-8A>T NP_001909.3:p.=
XM_005270545.2:c.667-8A>T XP_005270602.1:p.=
XM_005270546.2:c.667-8A>T XP_005270603.1:p.=
XM_005270545.4:c.667-8A>T XP_005270602.1:p.=
XM_017000468.2:c.667-8A>T XP_016855957.1:p.=
XM_017000469.2:c.667-8A>T XP_016855958.1:p.=
NM_001918.4:c.1210-8A>T NP_001909.3:p.=
NM_001918.5:c.1210-8A>T MANE Select NP_001909.4:p.=