Canonical Allele Identifier: CA341338245

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100681569T>C (hg19) ; chr1:g.100216013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100216013T>C , CM000663.2:g.100216013T>C	GRCh38
NC_000001.10:g.100681569T>C , CM000663.1:g.100681569T>C	GRCh37
NC_000001.9:g.100454157T>C	NCBI36
NG_011852.2:g.38841A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.742A>G	ENSP00000505544.1:p.Thr248Ala
ENST00000681780.1:c.199A>G	ENSP00000505780.1:p.Thr67Ala
ENST00000370131.3:c.742A>G	ENSP00000359150.3:p.Thr248Ala
ENST00000370132.8:c.742A>G MANE Select	ENSP00000359151.3:p.Thr248Ala
NM_001918.3:c.742A>G	NP_001909.3:p.Thr248Ala
XM_005270545.2:c.199A>G	XP_005270602.1:p.Thr67Ala
XM_005270546.2:c.199A>G	XP_005270603.1:p.Thr67Ala
XR_946560.1:n.762A>G
XM_005270545.4:c.199A>G	XP_005270602.1:p.Thr67Ala
XM_017000468.2:c.199A>G	XP_016855957.1:p.Thr67Ala
XM_017000469.2:c.199A>G	XP_016855958.1:p.Thr67Ala
XR_946560.3:n.759A>G
NM_001918.4:c.742A>G	NP_001909.3:p.Thr248Ala
NM_001918.5:c.742A>G MANE Select	NP_001909.4:p.Thr248Ala
NM_001399969.1:c.199A>G	NP_001386898.1:p.Thr67Ala
NM_001399972.1:c.199A>G	NP_001386901.1:p.Thr67Ala
NR_174363.1:n.574A>G
NR_174364.1:n.756A>G
NR_174365.1:n.570-1030A>G
NR_174366.1:n.756A>G