Canonical Allele Identifier: CA341337344

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680433T>G (hg19) ; chr1:g.100214877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214877T>G , CM000663.2:g.100214877T>G	GRCh38
NC_000001.10:g.100680433T>G , CM000663.1:g.100680433T>G	GRCh37
NC_000001.9:g.100453021T>G	NCBI36
NG_011852.2:g.39977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.879A>C	ENSP00000505544.1:p.Glu293Asp
ENST00000681780.1:c.336A>C	ENSP00000505780.1:p.Glu112Asp
ENST00000370131.3:c.879A>C	ENSP00000359150.3:p.Glu293Asp
ENST00000370132.8:c.879A>C MANE Select	ENSP00000359151.3:p.Glu293Asp
NM_001918.3:c.879A>C	NP_001909.3:p.Glu293Asp
XM_005270545.2:c.336A>C	XP_005270602.1:p.Glu112Asp
XM_005270546.2:c.336A>C	XP_005270603.1:p.Glu112Asp
XR_946560.1:n.899A>C
XM_005270545.4:c.336A>C	XP_005270602.1:p.Glu112Asp
XM_017000468.2:c.336A>C	XP_016855957.1:p.Glu112Asp
XM_017000469.2:c.336A>C	XP_016855958.1:p.Glu112Asp
XR_946560.3:n.896A>C
NM_001918.4:c.879A>C	NP_001909.3:p.Glu293Asp
NM_001918.5:c.879A>C MANE Select	NP_001909.4:p.Glu293Asp
NM_001399969.1:c.336A>C	NP_001386898.1:p.Glu112Asp
NM_001399972.1:c.336A>C	NP_001386901.1:p.Glu112Asp
NR_174363.1:n.711A>C
NR_174364.1:n.893A>C
NR_174365.1:n.676A>C
NR_174366.1:n.893A>C