Canonical Allele Identifier: CA339007742
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865608G>T , CM000663.2:g.23865608G>T GRCh38
NC_000001.10:g.24192098G>T , CM000663.1:g.24192098G>T GRCh37
NC_000001.9:g.24064685G>T NCBI36
NG_013346.1:g.7762C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.407C>A MANE Select ENSP00000363603.3:p.Thr136Lys
ENST00000374479.3:c.407C>A ENSP00000363603.3:p.Thr136Lys
NM_000147.4:c.407C>A NP_000138.2:p.Thr136Lys
XM_005245821.1:c.32C>A XP_005245878.1:p.Thr11Lys
XM_011541167.1:c.-227C>A XP_011539469.1:n.-227C>A
XM_005245821.3:c.32C>A XP_005245878.1:p.Thr11Lys
XM_011541167.3:c.-227C>A XP_011539469.1:n.-227C>A
XM_017000905.2:c.104C>A XP_016856394.1:p.Thr35Lys
NM_000147.5:c.407C>A MANE Select NP_000138.2:p.Thr136Lys
NR_174379.1:n.585C>A
NR_174380.1:n.634C>A
NR_174381.1:n.473C>A
NR_174382.1:n.870C>A