Canonical Allele Identifier: CA339035953
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848674A>C , CM000663.2:g.23848674A>C GRCh38
NC_000001.10:g.24175164A>C , CM000663.1:g.24175164A>C GRCh37
NC_000001.9:g.24047751A>C NCBI36
NG_013346.1:g.24696T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1135T>G MANE Select ENSP00000363603.3:p.Trp379Gly
ENST00000374479.3:c.1135T>G ENSP00000363603.3:p.Trp379Gly
NM_000147.4:c.1135T>G NP_000138.2:p.Trp379Gly
XM_005245821.1:c.760T>G XP_005245878.1:p.Trp254Gly
XM_011541167.1:c.502T>G XP_011539469.1:p.Trp168Gly
XM_005245821.3:c.760T>G XP_005245878.1:p.Trp254Gly
XM_011541167.3:c.502T>G XP_011539469.1:p.Trp168Gly
XM_017000905.2:c.832T>G XP_016856394.1:p.Trp278Gly
NM_000147.5:c.1135T>G MANE Select NP_000138.2:p.Trp379Gly
NR_174379.1:n.1313T>G
NR_174380.1:n.1362T>G
NR_174381.1:n.1201T>G
NR_174382.1:n.1598T>G