Canonical Allele Identifier: CA339009543
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868048T>A , CM000663.2:g.23868048T>A GRCh38
NC_000001.10:g.24194538T>A , CM000663.1:g.24194538T>A GRCh37
NC_000001.9:g.24067125T>A NCBI36
NG_013346.1:g.5322A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.239A>T MANE Select ENSP00000363603.3:p.His80Leu
ENST00000374479.3:c.239A>T ENSP00000363603.3:p.His80Leu
NM_000147.4:c.239A>T NP_000138.2:p.His80Leu
XM_005245821.1:c.-311A>T XP_005245878.1:n.-311A>T
XM_005245821.3:c.-311A>T XP_005245878.1:n.-311A>T
NM_000147.5:c.239A>T MANE Select NP_000138.2:p.His80Leu
NR_174379.1:n.243A>T
NR_174380.1:n.243A>T
NR_174381.1:n.243A>T
NR_174382.1:n.243A>T