Canonical Allele Identifier: CA22068413
Community Standard Title: NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr)
Gene: FOXE3 HGNC NCBI
LINC01389 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47416481G>A , CM000663.2:g.47416481G>A GRCh38
NC_000001.10:g.47882153G>A , CM000663.1:g.47882153G>A GRCh37
NC_000001.9:g.47654740G>A NCBI36
NG_016192.1:g.5410G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012186.3:c.166G>A (FOXE3) MANE Select NP_036318.1:p.Ala56Thr
ENST00000335071.4:c.166G>A (FOXE3) MANE Select ENSP00000334472.2:p.Ala56Thr
NM_012186.2:c.166G>A (FOXE3) NP_036318.1:p.Ala56Thr
NR_126355.1:n.29-6580C>T (LINC01389)
ENST00000335071.3:c.166G>A (FOXE3) ENSP00000334472.2:p.Ala56Thr