Canonical Allele Identifier: CA247142

Gene: DBT

Linked Data

• ClinVar Variation Id: 198475
• ClinVar RCV Id: RCV000179840 ; RCV003635905
• dbSNP Id: rs794727856
• MyVariant Identifiers: chr1:g.100680395G>C (hg19) ; chr1:g.100214839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214839G>C , CM000663.2:g.100214839G>C	GRCh38
NC_000001.10:g.100680395G>C , CM000663.1:g.100680395G>C	GRCh37
NC_000001.9:g.100452983G>C	NCBI36
NG_011852.2:g.40015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.917C>G	ENSP00000505544.1:p.Ser306Cys
ENST00000681780.1:c.374C>G	ENSP00000505780.1:p.Ser125Cys
ENST00000370131.3:c.917C>G	ENSP00000359150.3:p.Ser306Cys
ENST00000370132.8:c.917C>G MANE Select	ENSP00000359151.3:p.Ser306Cys
NM_001918.3:c.917C>G	NP_001909.3:p.Ser306Cys
XM_005270545.2:c.374C>G	XP_005270602.1:p.Ser125Cys
XM_005270546.2:c.374C>G	XP_005270603.1:p.Ser125Cys
XR_946560.1:n.937C>G
XM_005270545.4:c.374C>G	XP_005270602.1:p.Ser125Cys
XM_017000468.2:c.374C>G	XP_016855957.1:p.Ser125Cys
XM_017000469.2:c.374C>G	XP_016855958.1:p.Ser125Cys
XR_946560.3:n.934C>G
NM_001918.4:c.917C>G	NP_001909.3:p.Ser306Cys
NM_001918.5:c.917C>G MANE Select	NP_001909.4:p.Ser306Cys
NM_001399969.1:c.374C>G	NP_001386898.1:p.Ser125Cys
NM_001399972.1:c.374C>G	NP_001386901.1:p.Ser125Cys
NR_174363.1:n.749C>G
NR_174364.1:n.931C>G
NR_174365.1:n.714C>G
NR_174366.1:n.931C>G