Canonical Allele Identifier: CA339009739
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868066C>A , CM000663.2:g.23868066C>A GRCh38
NC_000001.10:g.24194556C>A , CM000663.1:g.24194556C>A GRCh37
NC_000001.9:g.24067143C>A NCBI36
NG_013346.1:g.5304G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.221G>T MANE Select ENSP00000363603.3:p.Ser74Ile
ENST00000374479.3:c.221G>T ENSP00000363603.3:p.Ser74Ile
NM_000147.4:c.221G>T NP_000138.2:p.Ser74Ile
XM_005245821.1:c.-329G>T XP_005245878.1:n.-329G>T
XM_005245821.3:c.-329G>T XP_005245878.1:n.-329G>T
NM_000147.5:c.221G>T MANE Select NP_000138.2:p.Ser74Ile
NR_174379.1:n.225G>T
NR_174380.1:n.225G>T
NR_174381.1:n.225G>T
NR_174382.1:n.225G>T