Canonical Allele Identifier: CA341337792
Gene: DBT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100214935G>A , CM000663.2:g.100214935G>A GRCh38
NC_000001.10:g.100680491G>A , CM000663.1:g.100680491G>A GRCh37
NC_000001.9:g.100453079G>A NCBI36
NG_011852.2:g.39919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.821C>T ENSP00000505544.1:p.Pro274Leu
ENST00000681780.1:c.278C>T ENSP00000505780.1:p.Pro93Leu
ENST00000370131.3:c.821C>T ENSP00000359150.3:p.Pro274Leu
ENST00000370132.8:c.821C>T MANE Select ENSP00000359151.3:p.Pro274Leu
NM_001918.3:c.821C>T NP_001909.3:p.Pro274Leu
XM_005270545.2:c.278C>T XP_005270602.1:p.Pro93Leu
XM_005270546.2:c.278C>T XP_005270603.1:p.Pro93Leu
XR_946560.1:n.841C>T
XM_005270545.4:c.278C>T XP_005270602.1:p.Pro93Leu
XM_017000468.2:c.278C>T XP_016855957.1:p.Pro93Leu
XM_017000469.2:c.278C>T XP_016855958.1:p.Pro93Leu
XR_946560.3:n.838C>T
NM_001918.4:c.821C>T NP_001909.3:p.Pro274Leu
NM_001918.5:c.821C>T MANE Select NP_001909.4:p.Pro274Leu
NM_001399969.1:c.278C>T NP_001386898.1:p.Pro93Leu
NM_001399972.1:c.278C>T NP_001386901.1:p.Pro93Leu
NR_174363.1:n.653C>T
NR_174364.1:n.835C>T
NR_174365.1:n.618C>T
NR_174366.1:n.835C>T