Canonical Allele Identifier: CA339008949
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867964G>C , CM000663.2:g.23867964G>C GRCh38
NC_000001.10:g.24194454G>C , CM000663.1:g.24194454G>C GRCh37
NC_000001.9:g.24067041G>C NCBI36
NG_013346.1:g.5406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.323C>G MANE Select ENSP00000363603.3:p.Pro108Arg
ENST00000374479.3:c.323C>G ENSP00000363603.3:p.Pro108Arg
NM_000147.4:c.323C>G NP_000138.2:p.Pro108Arg
XM_005245821.1:c.-227C>G XP_005245878.1:n.-227C>G
XM_005245821.3:c.-227C>G XP_005245878.1:n.-227C>G
NM_000147.5:c.323C>G MANE Select NP_000138.2:p.Pro108Arg
NR_174379.1:n.327C>G
NR_174380.1:n.327C>G
NR_174381.1:n.327C>G
NR_174382.1:n.327C>G