Canonical Allele Identifier: CA3142076776
Community Standard Title: NM_032020.5(FUCA2):c.1045T= (p.Phe349=)
Gene: FUCA2 HGNC NCBI
VDAC1P8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143502041A= , CM000668.2:g.143502041A= GRCh38
NC_000006.11:g.143823178A= , CM000668.1:g.143823178A= GRCh37
NC_000006.10:g.143864871A= NCBI36
NG_027676.1:g.14843T=

Transcript Alleles

HGVS Amino-acid Change
NM_032020.5:c.1045T= (FUCA2) MANE Select NP_114409.2:p.Phe349=
ENST00000002165.11:c.1045T= (FUCA2) MANE Select ENSP00000002165.5:p.Phe349=
NM_032020.4:c.1045T= (FUCA2) NP_114409.2:p.Phe349=
ENST00000002165.10:c.1045T= (FUCA2) ENSP00000002165.5:p.Phe349=
ENST00000367585.1:n.550T= (FUCA2)
ENST00000438118.6:n.801-1353A= (VDAC1P8)
ENST00000451668.1:c.82T= (FUCA2) ENSP00000398119.1:p.Phe28=
ENST00000589563.5:n.502-3299A= (VDAC1P8)
ENST00000610068.5:n.969-1353A= (VDAC1P8)
ENST00000622321.1:n.91-1353A= (VDAC1P8)