Canonical Allele Identifier: CA341351568

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100196358G>C , CM000663.2:g.100196358G>C	GRCh38
NC_000001.10:g.100661914G>C , CM000663.1:g.100661914G>C	GRCh37
NC_000001.9:g.100434502G>C	NCBI36
NG_011852.2:g.58496C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.1346C>G MANE Select	NP_001909.4:p.Ser449Ter
ENST00000370132.8:c.1346C>G MANE Select	ENSP00000359151.3:p.Ser449Ter
NM_001399969.1:c.803C>G	NP_001386898.1:p.Ser268Ter
NM_001399972.1:c.803C>G	NP_001386901.1:p.Ser268Ter
NM_001918.3:c.1346C>G	NP_001909.3:p.Ser449Ter
NM_001918.4:c.1346C>G	NP_001909.3:p.Ser449Ter
NR_174363.1:n.1178C>G
NR_174364.1:n.1519C>G
NR_174365.1:n.1143C>G
NR_174366.1:n.1445C>G
ENST00000681617.1:c.1472C>G	ENSP00000505544.1:p.Ser491Ter
ENST00000681780.1:c.803C>G	ENSP00000505780.1:p.Ser268Ter
XM_005270545.2:c.803C>G	XP_005270602.1:p.Ser268Ter
XM_005270545.4:c.803C>G	XP_005270602.1:p.Ser268Ter
XM_005270546.2:c.803C>G	XP_005270603.1:p.Ser268Ter
XM_017000468.2:c.803C>G	XP_016855957.1:p.Ser268Ter
XM_017000469.2:c.803C>G	XP_016855958.1:p.Ser268Ter