Canonical Allele Identifier: CA339036104
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848694G>T , CM000663.2:g.23848694G>T GRCh38
NC_000001.10:g.24175184G>T , CM000663.1:g.24175184G>T GRCh37
NC_000001.9:g.24047771G>T NCBI36
NG_013346.1:g.24676C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1115C>A MANE Select ENSP00000363603.3:p.Ser372Tyr
ENST00000374479.3:c.1115C>A ENSP00000363603.3:p.Ser372Tyr
NM_000147.4:c.1115C>A NP_000138.2:p.Ser372Tyr
XM_005245821.1:c.740C>A XP_005245878.1:p.Ser247Tyr
XM_011541167.1:c.482C>A XP_011539469.1:p.Ser161Tyr
XM_005245821.3:c.740C>A XP_005245878.1:p.Ser247Tyr
XM_011541167.3:c.482C>A XP_011539469.1:p.Ser161Tyr
XM_017000905.2:c.812C>A XP_016856394.1:p.Ser271Tyr
NM_000147.5:c.1115C>A MANE Select NP_000138.2:p.Ser372Tyr
NR_174379.1:n.1293C>A
NR_174380.1:n.1342C>A
NR_174381.1:n.1181C>A
NR_174382.1:n.1578C>A