Canonical Allele Identifier: CA341338210

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100681559T>G (hg19) ; chr1:g.100216003T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100216003T>G , CM000663.2:g.100216003T>G	GRCh38
NC_000001.10:g.100681559T>G , CM000663.1:g.100681559T>G	GRCh37
NC_000001.9:g.100454147T>G	NCBI36
NG_011852.2:g.38851A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.752A>C	ENSP00000505544.1:p.Asp251Ala
ENST00000681780.1:c.209A>C	ENSP00000505780.1:p.Asp70Ala
ENST00000370131.3:c.752A>C	ENSP00000359150.3:p.Asp251Ala
ENST00000370132.8:c.752A>C MANE Select	ENSP00000359151.3:p.Asp251Ala
NM_001918.3:c.752A>C	NP_001909.3:p.Asp251Ala
XM_005270545.2:c.209A>C	XP_005270602.1:p.Asp70Ala
XM_005270546.2:c.209A>C	XP_005270603.1:p.Asp70Ala
XR_946560.1:n.772A>C
XM_005270545.4:c.209A>C	XP_005270602.1:p.Asp70Ala
XM_017000468.2:c.209A>C	XP_016855957.1:p.Asp70Ala
XM_017000469.2:c.209A>C	XP_016855958.1:p.Asp70Ala
XR_946560.3:n.769A>C
NM_001918.4:c.752A>C	NP_001909.3:p.Asp251Ala
NM_001918.5:c.752A>C MANE Select	NP_001909.4:p.Asp251Ala
NM_001399969.1:c.209A>C	NP_001386898.1:p.Asp70Ala
NM_001399972.1:c.209A>C	NP_001386901.1:p.Asp70Ala
NR_174363.1:n.584A>C
NR_174364.1:n.766A>C
NR_174365.1:n.570-1020A>C
NR_174366.1:n.766A>C