Canonical Allele Identifier: CA339008666
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867920G>C , CM000663.2:g.23867920G>C GRCh38
NC_000001.10:g.24194410G>C , CM000663.1:g.24194410G>C GRCh37
NC_000001.9:g.24066997G>C NCBI36
NG_013346.1:g.5450C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.367C>G MANE Select ENSP00000363603.3:p.Leu123Val
ENST00000374479.3:c.367C>G ENSP00000363603.3:p.Leu123Val
NM_000147.4:c.367C>G NP_000138.2:p.Leu123Val
XM_005245821.1:c.-183C>G XP_005245878.1:n.-183C>G
XM_005245821.3:c.-183C>G XP_005245878.1:n.-183C>G
NM_000147.5:c.367C>G MANE Select NP_000138.2:p.Leu123Val
NR_174379.1:n.371C>G
NR_174380.1:n.371C>G
NR_174381.1:n.371C>G
NR_174382.1:n.371C>G