Canonical Allele Identifier: CA147527
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 93989
dbSNP Id: rs115696850

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100206199A>C , CM000663.2:g.100206199A>C GRCh38
NC_000001.10:g.100671755A>C , CM000663.1:g.100671755A>C GRCh37
NC_000001.9:g.100444343A>C NCBI36
NG_011852.2:g.48655T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.1407+31T>G ENSP00000505544.1:n.1407+31T>G
ENST00000681780.1:c.738+31T>G ENSP00000505780.1:n.738+31T>G
ENST00000370132.8:c.1281+31T>G MANE Select ENSP00000359151.3:n.1281+31T>G
NM_001918.3:c.1281+31T>G NP_001909.3:n.1281+31T>G
XM_005270545.2:c.738+31T>G XP_005270602.1:n.738+31T>G
XM_005270546.2:c.738+31T>G XP_005270603.1:n.738+31T>G
XM_005270545.4:c.738+31T>G XP_005270602.1:n.738+31T>G
XM_017000468.2:c.738+31T>G XP_016855957.1:n.738+31T>G
XM_017000469.2:c.738+31T>G XP_016855958.1:n.738+31T>G
NM_001918.4:c.1281+31T>G NP_001909.3:n.1281+31T>G
NM_001918.5:c.1281+31T>G MANE Select NP_001909.4:n.1281+31T>G
NM_001399969.1:c.738+31T>G NP_001386898.1:n.738+31T>G
NM_001399972.1:c.738+31T>G NP_001386901.1:n.738+31T>G
NR_174363.1:n.1113+31T>G
NR_174364.1:n.1295+31T>G
NR_174365.1:n.1078+31T>G
NR_174366.1:n.1380+31T>G