Canonical Allele Identifier: CA339036745
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848827T>A , CM000663.2:g.23848827T>A GRCh38
NC_000001.10:g.24175317T>A , CM000663.1:g.24175317T>A GRCh37
NC_000001.9:g.24047904T>A NCBI36
NG_013346.1:g.24543A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.982A>T MANE Select ENSP00000363603.3:p.Thr328Ser
ENST00000374479.3:c.982A>T ENSP00000363603.3:p.Thr328Ser
NM_000147.4:c.982A>T NP_000138.2:p.Thr328Ser
XM_005245821.1:c.607A>T XP_005245878.1:p.Thr203Ser
XM_011541167.1:c.349A>T XP_011539469.1:p.Thr117Ser
XM_005245821.3:c.607A>T XP_005245878.1:p.Thr203Ser
XM_011541167.3:c.349A>T XP_011539469.1:p.Thr117Ser
XM_017000905.2:c.679A>T XP_016856394.1:p.Thr227Ser
NM_000147.5:c.982A>T MANE Select NP_000138.2:p.Thr328Ser
NR_174379.1:n.1160A>T
NR_174380.1:n.1209A>T
NR_174381.1:n.1048A>T
NR_174382.1:n.1445A>T