Canonical Allele Identifier: CA339036744
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.982A>C MANE Select ENSP00000363603.3:p.Thr328Pro
ENST00000374479.3:c.982A>C ENSP00000363603.3:p.Thr328Pro
NM_000147.4:c.982A>C NP_000138.2:p.Thr328Pro
XM_005245821.1:c.607A>C XP_005245878.1:p.Thr203Pro
XM_011541167.1:c.349A>C XP_011539469.1:p.Thr117Pro
XM_005245821.3:c.607A>C XP_005245878.1:p.Thr203Pro
XM_011541167.3:c.349A>C XP_011539469.1:p.Thr117Pro
XM_017000905.2:c.679A>C XP_016856394.1:p.Thr227Pro
NM_000147.5:c.982A>C MANE Select NP_000138.2:p.Thr328Pro
NR_174379.1:n.1160A>C
NR_174380.1:n.1209A>C
NR_174381.1:n.1048A>C
NR_174382.1:n.1445A>C