Canonical Allele Identifier: CA121806
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 11953
ClinVar RCV Id: RCV000012731
dbSNP Id: rs121965003

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100216174G>C , CM000663.2:g.100216174G>C GRCh38
NC_000001.10:g.100681730G>C , CM000663.1:g.100681730G>C GRCh37
NC_000001.9:g.100454318G>C NCBI36
NG_011852.2:g.38680C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.581C>G ENSP00000505544.1:p.Ser194Ter
ENST00000681780.1:c.38C>G ENSP00000505780.1:p.Ser13Ter
ENST00000370131.3:c.581C>G ENSP00000359150.3:p.Ser194Ter
ENST00000370132.8:c.581C>G MANE Select ENSP00000359151.3:p.Ser194Ter
NM_001918.3:c.581C>G NP_001909.3:p.Ser194Ter
XM_005270545.2:c.38C>G XP_005270602.1:p.Ser13Ter
XM_005270546.2:c.38C>G XP_005270603.1:p.Ser13Ter
XR_946560.1:n.601C>G
XM_005270545.4:c.38C>G XP_005270602.1:p.Ser13Ter
XM_017000468.2:c.38C>G XP_016855957.1:p.Ser13Ter
XM_017000469.2:c.38C>G XP_016855958.1:p.Ser13Ter
XR_946560.3:n.598C>G
NM_001918.4:c.581C>G NP_001909.3:p.Ser194Ter
NM_001918.5:c.581C>G MANE Select NP_001909.4:p.Ser194Ter
NM_001399969.1:c.38C>G NP_001386898.1:p.Ser13Ter
NM_001399972.1:c.38C>G NP_001386901.1:p.Ser13Ter
NR_174363.1:n.413C>G
NR_174364.1:n.595C>G
NR_174365.1:n.570-1191C>G
NR_174366.1:n.595C>G