Canonical Allele Identifier: CA341330321

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100206455T>C , CM000663.2:g.100206455T>C	GRCh38
NC_000001.10:g.100672011T>C , CM000663.1:g.100672011T>C	GRCh37
NC_000001.9:g.100444599T>C	NCBI36
NG_011852.2:g.48399A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.1199A>G MANE Select	NP_001909.4:p.Asn400Ser
ENST00000370132.8:c.1199A>G MANE Select	ENSP00000359151.3:p.Asn400Ser
NM_001399969.1:c.656A>G	NP_001386898.1:p.Asn219Ser
NM_001399972.1:c.656A>G	NP_001386901.1:p.Asn219Ser
NM_001918.3:c.1199A>G	NP_001909.3:p.Asn400Ser
NM_001918.4:c.1199A>G	NP_001909.3:p.Asn400Ser
NR_174363.1:n.1031A>G
NR_174364.1:n.1213A>G
NR_174365.1:n.996A>G
NR_174366.1:n.1298A>G
ENST00000681617.1:c.1325A>G	ENSP00000505544.1:p.Asn442Ser
ENST00000681780.1:c.656A>G	ENSP00000505780.1:p.Asn219Ser
XM_005270545.2:c.656A>G	XP_005270602.1:p.Asn219Ser
XM_005270545.4:c.656A>G	XP_005270602.1:p.Asn219Ser
XM_005270546.2:c.656A>G	XP_005270603.1:p.Asn219Ser
XM_017000468.2:c.656A>G	XP_016855957.1:p.Asn219Ser
XM_017000469.2:c.656A>G	XP_016855958.1:p.Asn219Ser