Canonical Allele Identifier: CA341336937

Gene: DBT

Linked Data

• gnomAD v4: 1-100214826-G-C
• MyVariant Identifiers: chr1:g.100680382G>C (hg19) ; chr1:g.100214826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214826G>C , CM000663.2:g.100214826G>C	GRCh38
NC_000001.10:g.100680382G>C , CM000663.1:g.100680382G>C	GRCh37
NC_000001.9:g.100452970G>C	NCBI36
NG_011852.2:g.40028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.930C>G	ENSP00000505544.1:p.Phe310Leu
ENST00000681780.1:c.387C>G	ENSP00000505780.1:p.Phe129Leu
ENST00000370131.3:c.930C>G	ENSP00000359150.3:p.Phe310Leu
ENST00000370132.8:c.930C>G MANE Select	ENSP00000359151.3:p.Phe310Leu
NM_001918.3:c.930C>G	NP_001909.3:p.Phe310Leu
XM_005270545.2:c.387C>G	XP_005270602.1:p.Phe129Leu
XM_005270546.2:c.387C>G	XP_005270603.1:p.Phe129Leu
XR_946560.1:n.950C>G
XM_005270545.4:c.387C>G	XP_005270602.1:p.Phe129Leu
XM_017000468.2:c.387C>G	XP_016855957.1:p.Phe129Leu
XM_017000469.2:c.387C>G	XP_016855958.1:p.Phe129Leu
XR_946560.3:n.947C>G
NM_001918.4:c.930C>G	NP_001909.3:p.Phe310Leu
NM_001918.5:c.930C>G MANE Select	NP_001909.4:p.Phe310Leu
NM_001399969.1:c.387C>G	NP_001386898.1:p.Phe129Leu
NM_001399972.1:c.387C>G	NP_001386901.1:p.Phe129Leu
NR_174363.1:n.762C>G
NR_174364.1:n.944C>G
NR_174365.1:n.727C>G
NR_174366.1:n.944C>G