Canonical Allele Identifier: CA339009701
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1639662747

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868061A>C , CM000663.2:g.23868061A>C GRCh38
NC_000001.10:g.24194551A>C , CM000663.1:g.24194551A>C GRCh37
NC_000001.9:g.24067138A>C NCBI36
NG_013346.1:g.5309T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.226T>G MANE Select ENSP00000363603.3:p.Trp76Gly
ENST00000374479.3:c.226T>G ENSP00000363603.3:p.Trp76Gly
NM_000147.4:c.226T>G NP_000138.2:p.Trp76Gly
XM_005245821.1:c.-324T>G XP_005245878.1:n.-324T>G
XM_005245821.3:c.-324T>G XP_005245878.1:n.-324T>G
NM_000147.5:c.226T>G MANE Select NP_000138.2:p.Trp76Gly
NR_174379.1:n.230T>G
NR_174380.1:n.230T>G
NR_174381.1:n.230T>G
NR_174382.1:n.230T>G