Canonical Allele Identifier: CA339008903
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867957-G-C
MyVariant Identifiers: chr1:g.24194447G>C (hg19) chr1:g.23867957G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867957G>C , CM000663.2:g.23867957G>C GRCh38
NC_000001.10:g.24194447G>C , CM000663.1:g.24194447G>C GRCh37
NC_000001.9:g.24067034G>C NCBI36
NG_013346.1:g.5413C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.330C>G MANE Select ENSP00000363603.3:p.Phe110Leu
ENST00000374479.3:c.330C>G ENSP00000363603.3:p.Phe110Leu
NM_000147.4:c.330C>G NP_000138.2:p.Phe110Leu
XM_005245821.1:c.-220C>G XP_005245878.1:n.-220C>G
XM_005245821.3:c.-220C>G XP_005245878.1:n.-220C>G
NM_000147.5:c.330C>G MANE Select NP_000138.2:p.Phe110Leu
NR_174379.1:n.334C>G
NR_174380.1:n.334C>G
NR_174381.1:n.334C>G
NR_174382.1:n.334C>G
Search 100 bp 5'
Search 100 bp 3'