Canonical Allele Identifier: CA339009263
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23868011-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868011G>T , CM000663.2:g.23868011G>T GRCh38
NC_000001.10:g.24194501G>T , CM000663.1:g.24194501G>T GRCh37
NC_000001.9:g.24067088G>T NCBI36
NG_013346.1:g.5359C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.276C>A MANE Select ENSP00000363603.3:p.Phe92Leu
ENST00000374479.3:c.276C>A ENSP00000363603.3:p.Phe92Leu
NM_000147.4:c.276C>A NP_000138.2:p.Phe92Leu
XM_005245821.1:c.-274C>A XP_005245878.1:n.-274C>A
XM_005245821.3:c.-274C>A XP_005245878.1:n.-274C>A
NM_000147.5:c.276C>A MANE Select NP_000138.2:p.Phe92Leu
NR_174379.1:n.280C>A
NR_174380.1:n.280C>A
NR_174381.1:n.280C>A
NR_174382.1:n.280C>A