Canonical Allele Identifier: CA1141580945
Community Standard Title: NM_001918.5(DBT):c.581C= (p.Ser194=)
Gene: DBT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100216174G= , CM000663.2:g.100216174G= GRCh38
NC_000001.10:g.100681730G= , CM000663.1:g.100681730G= GRCh37
NC_000001.9:g.100454318G= NCBI36
NG_011852.2:g.38680C=

Transcript Alleles

HGVS Amino-acid Change
NM_001918.5:c.581C= MANE Select NP_001909.4:p.Ser194=
ENST00000370132.8:c.581C= MANE Select ENSP00000359151.3:p.Ser194=
NM_001399969.1:c.38C= NP_001386898.1:p.Ser13=
NM_001399972.1:c.38C= NP_001386901.1:p.Ser13=
NM_001918.3:c.581C= NP_001909.3:p.Ser194=
NM_001918.4:c.581C= NP_001909.3:p.Ser194=
NR_174363.1:n.413C=
NR_174364.1:n.595C=
NR_174365.1:n.570-1191C=
NR_174366.1:n.595C=
ENST00000370131.3:c.581C= ENSP00000359150.3:p.Ser194=
ENST00000681617.1:c.581C= ENSP00000505544.1:p.Ser194=
ENST00000681780.1:c.38C= ENSP00000505780.1:p.Ser13=
XM_005270545.2:c.38C= XP_005270602.1:p.Ser13=
XM_005270545.4:c.38C= XP_005270602.1:p.Ser13=
XM_005270546.2:c.38C= XP_005270603.1:p.Ser13=
XM_017000468.2:c.38C= XP_016855957.1:p.Ser13=
XM_017000469.2:c.38C= XP_016855958.1:p.Ser13=
XR_946560.1:n.601C=
XR_946560.3:n.598C=