Canonical Allele Identifier: CA339036186
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848706G>T , CM000663.2:g.23848706G>T GRCh38
NC_000001.10:g.24175196G>T , CM000663.1:g.24175196G>T GRCh37
NC_000001.9:g.24047783G>T NCBI36
NG_013346.1:g.24664C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1103C>A MANE Select ENSP00000363603.3:p.Ala368Asp
ENST00000374479.3:c.1103C>A ENSP00000363603.3:p.Ala368Asp
NM_000147.4:c.1103C>A NP_000138.2:p.Ala368Asp
XM_005245821.1:c.728C>A XP_005245878.1:p.Ala243Asp
XM_011541167.1:c.470C>A XP_011539469.1:p.Ala157Asp
XM_005245821.3:c.728C>A XP_005245878.1:p.Ala243Asp
XM_011541167.3:c.470C>A XP_011539469.1:p.Ala157Asp
XM_017000905.2:c.800C>A XP_016856394.1:p.Ala267Asp
NM_000147.5:c.1103C>A MANE Select NP_000138.2:p.Ala368Asp
NR_174379.1:n.1281C>A
NR_174380.1:n.1330C>A
NR_174381.1:n.1169C>A
NR_174382.1:n.1566C>A