Canonical Allele Identifier: CA419099411

Gene: DBT

Linked Data

• dbSNP Id: rs1195373378
• gnomAD v2: 1-100672001-T-C
• gnomAD v3: 1-100206445-T-C
• gnomAD v4: 1-100206445-T-C
• MyVariant Identifiers: chr1:g.100672001T>C (hg19) ; chr1:g.100206445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206445T>C , CM000663.2:g.100206445T>C	GRCh38
NC_000001.10:g.100672001T>C , CM000663.1:g.100672001T>C	GRCh37
NC_000001.9:g.100444589T>C	NCBI36
NG_011852.2:g.48409A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.1335A>G	ENSP00000505544.1:p.Ser445=
ENST00000681780.1:c.666A>G	ENSP00000505780.1:p.Ser222=
ENST00000370132.8:c.1209A>G MANE Select	ENSP00000359151.3:p.Ser403=
NM_001918.3:c.1209A>G	NP_001909.3:p.Ser403=
XM_005270545.2:c.666A>G	XP_005270602.1:p.Ser222=
XM_005270546.2:c.666A>G	XP_005270603.1:p.Ser222=
XM_005270545.4:c.666A>G	XP_005270602.1:p.Ser222=
XM_017000468.2:c.666A>G	XP_016855957.1:p.Ser222=
XM_017000469.2:c.666A>G	XP_016855958.1:p.Ser222=
NM_001918.4:c.1209A>G	NP_001909.3:p.Ser403=
NM_001918.5:c.1209A>G MANE Select	NP_001909.4:p.Ser403=
NM_001399969.1:c.666A>G	NP_001386898.1:p.Ser222=
NM_001399972.1:c.666A>G	NP_001386901.1:p.Ser222=
NR_174363.1:n.1041A>G
NR_174364.1:n.1223A>G
NR_174365.1:n.1006A>G
NR_174366.1:n.1308A>G