Canonical Allele Identifier: CA16603590
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381591
ClinVar RCV Id: RCV000422988
dbSNP Id: rs1057521087
gnomAD v4: 1-23848775-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848775C>T , CM000663.2:g.23848775C>T GRCh38
NC_000001.10:g.24175265C>T , CM000663.1:g.24175265C>T GRCh37
NC_000001.9:g.24047852C>T NCBI36
NG_013346.1:g.24595G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374479.4:c.1034G>A MANE Select ENSP00000363603.3:p.Gly345Glu
ENST00000374479.3:c.1034G>A ENSP00000363603.3:p.Gly345Glu
NM_000147.4:c.1034G>A NP_000138.2:p.Gly345Glu
XM_005245821.1:c.659G>A XP_005245878.1:p.Gly220Glu
XM_011541167.1:c.401G>A XP_011539469.1:p.Gly134Glu
XM_005245821.3:c.659G>A XP_005245878.1:p.Gly220Glu
XM_011541167.3:c.401G>A XP_011539469.1:p.Gly134Glu
XM_017000905.2:c.731G>A XP_016856394.1:p.Gly244Glu
NM_000147.5:c.1034G>A MANE Select NP_000138.2:p.Gly345Glu
NR_174379.1:n.1212G>A
NR_174380.1:n.1261G>A
NR_174381.1:n.1100G>A
NR_174382.1:n.1497G>A