Canonical Allele Identifier: CA1184058861
Community Standard Title: NM_001918.5(DBT):c.1261G= (p.Gly421=)
Gene: DBT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100206250C= , CM000663.2:g.100206250C= GRCh38
NC_000001.10:g.100671806C= , CM000663.1:g.100671806C= GRCh37
NC_000001.9:g.100444394C= NCBI36
NG_011852.2:g.48604G=

Transcript Alleles

HGVS Amino-acid Change
NM_001918.5:c.1261G= MANE Select NP_001909.4:p.Gly421=
ENST00000370132.8:c.1261G= MANE Select ENSP00000359151.3:p.Gly421=
NM_001399969.1:c.718G= NP_001386898.1:p.Gly240=
NM_001399972.1:c.718G= NP_001386901.1:p.Gly240=
NM_001918.3:c.1261G= NP_001909.3:p.Gly421=
NM_001918.4:c.1261G= NP_001909.3:p.Gly421=
NR_174363.1:n.1093G=
NR_174364.1:n.1275G=
NR_174365.1:n.1058G=
NR_174366.1:n.1360G=
ENST00000681617.1:c.1387G= ENSP00000505544.1:p.Gly463=
ENST00000681780.1:c.718G= ENSP00000505780.1:p.Gly240=
XM_005270545.2:c.718G= XP_005270602.1:p.Gly240=
XM_005270545.4:c.718G= XP_005270602.1:p.Gly240=
XM_005270546.2:c.718G= XP_005270603.1:p.Gly240=
XM_017000468.2:c.718G= XP_016855957.1:p.Gly240=
XM_017000469.2:c.718G= XP_016855958.1:p.Gly240=