Canonical Allele Identifier: CA341345478

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235478G>T , CM000663.2:g.100235478G>T	GRCh38
NC_000001.10:g.100701034G>T , CM000663.1:g.100701034G>T	GRCh37
NC_000001.9:g.100473622G>T	NCBI36
NG_011852.2:g.19376C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.209C>A MANE Select	NP_001909.4:p.Ser70Ter
ENST00000370132.8:c.209C>A MANE Select	ENSP00000359151.3:p.Ser70Ter
NM_001399969.1:c.-335C>A	NP_001386898.1:n.-335C>A
NM_001399972.1:c.-335C>A	NP_001386901.1:n.-335C>A
NM_001918.3:c.209C>A	NP_001909.3:p.Ser70Ter
NM_001918.4:c.209C>A	NP_001909.3:p.Ser70Ter
NR_174363.1:n.223C>A
NR_174364.1:n.223C>A
NR_174365.1:n.223C>A
NR_174366.1:n.223C>A
ENST00000370131.3:c.209C>A	ENSP00000359150.3:p.Ser70Ter
ENST00000681617.1:c.209C>A	ENSP00000505544.1:p.Ser70Ter
ENST00000681780.1:c.-335C>A	ENSP00000505780.1:n.-335C>A
XM_005270545.2:c.-335C>A	XP_005270602.1:n.-335C>A
XM_005270545.4:c.-335C>A	XP_005270602.1:n.-335C>A
XM_005270546.2:c.-153C>A	XP_005270603.1:n.-153C>A
XM_017000468.2:c.-335C>A	XP_016855957.1:n.-335C>A
XM_017000469.2:c.-153C>A	XP_016855958.1:n.-153C>A
XR_946560.1:n.229C>A
XR_946560.3:n.226C>A