Canonical Allele Identifier: CA339036246
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848713C>G , CM000663.2:g.23848713C>G GRCh38
NC_000001.10:g.24175203C>G , CM000663.1:g.24175203C>G GRCh37
NC_000001.9:g.24047790C>G NCBI36
NG_013346.1:g.24657G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1096G>C MANE Select ENSP00000363603.3:p.Gly366Arg
ENST00000374479.3:c.1096G>C ENSP00000363603.3:p.Gly366Arg
NM_000147.4:c.1096G>C NP_000138.2:p.Gly366Arg
XM_005245821.1:c.721G>C XP_005245878.1:p.Gly241Arg
XM_011541167.1:c.463G>C XP_011539469.1:p.Gly155Arg
XM_005245821.3:c.721G>C XP_005245878.1:p.Gly241Arg
XM_011541167.3:c.463G>C XP_011539469.1:p.Gly155Arg
XM_017000905.2:c.793G>C XP_016856394.1:p.Gly265Arg
NM_000147.5:c.1096G>C MANE Select NP_000138.2:p.Gly366Arg
NR_174379.1:n.1274G>C
NR_174380.1:n.1323G>C
NR_174381.1:n.1162G>C
NR_174382.1:n.1559G>C