Canonical Allele Identifier: CA341338040
Gene: DBT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100214978G>T , CM000663.2:g.100214978G>T GRCh38
NC_000001.10:g.100680534G>T , CM000663.1:g.100680534G>T GRCh37
NC_000001.9:g.100453122G>T NCBI36
NG_011852.2:g.39876C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.778C>A ENSP00000505544.1:p.Gln260Lys
ENST00000681780.1:c.235C>A ENSP00000505780.1:p.Gln79Lys
ENST00000370131.3:c.778C>A ENSP00000359150.3:p.Gln260Lys
ENST00000370132.8:c.778C>A MANE Select ENSP00000359151.3:p.Gln260Lys
NM_001918.3:c.778C>A NP_001909.3:p.Gln260Lys
XM_005270545.2:c.235C>A XP_005270602.1:p.Gln79Lys
XM_005270546.2:c.235C>A XP_005270603.1:p.Gln79Lys
XR_946560.1:n.798C>A
XM_005270545.4:c.235C>A XP_005270602.1:p.Gln79Lys
XM_017000468.2:c.235C>A XP_016855957.1:p.Gln79Lys
XM_017000469.2:c.235C>A XP_016855958.1:p.Gln79Lys
XR_946560.3:n.795C>A
NM_001918.4:c.778C>A NP_001909.3:p.Gln260Lys
NM_001918.5:c.778C>A MANE Select NP_001909.4:p.Gln260Lys
NM_001399969.1:c.235C>A NP_001386898.1:p.Gln79Lys
NM_001399972.1:c.235C>A NP_001386901.1:p.Gln79Lys
NR_174363.1:n.610C>A
NR_174364.1:n.792C>A
NR_174365.1:n.575C>A
NR_174366.1:n.792C>A