Canonical Allele Identifier: CA339009475
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868037C>G , CM000663.2:g.23868037C>G GRCh38
NC_000001.10:g.24194527C>G , CM000663.1:g.24194527C>G GRCh37
NC_000001.9:g.24067114C>G NCBI36
NG_013346.1:g.5333G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.250G>C MANE Select ENSP00000363603.3:p.Glu84Gln
ENST00000374479.3:c.250G>C ENSP00000363603.3:p.Glu84Gln
NM_000147.4:c.250G>C NP_000138.2:p.Glu84Gln
XM_005245821.1:c.-300G>C XP_005245878.1:n.-300G>C
XM_005245821.3:c.-300G>C XP_005245878.1:n.-300G>C
NM_000147.5:c.250G>C MANE Select NP_000138.2:p.Glu84Gln
NR_174379.1:n.254G>C
NR_174380.1:n.254G>C
NR_174381.1:n.254G>C
NR_174382.1:n.254G>C