Canonical Allele Identifier: CA416626787
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24175195A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848705A>C , CM000663.2:g.23848705A>C GRCh38
NC_000001.10:g.24175195A>C , CM000663.1:g.24175195A>C GRCh37
NC_000001.9:g.24047782A>C NCBI36
NG_013346.1:g.24665T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1104T>G MANE Select ENSP00000363603.3:p.Ala368=
ENST00000374479.3:c.1104T>G ENSP00000363603.3:p.Ala368=
NM_000147.4:c.1104T>G NP_000138.2:p.Ala368=
XM_005245821.1:c.729T>G XP_005245878.1:p.Ala243=
XM_011541167.1:c.471T>G XP_011539469.1:p.Ala157=
XM_005245821.3:c.729T>G XP_005245878.1:p.Ala243=
XM_011541167.3:c.471T>G XP_011539469.1:p.Ala157=
XM_017000905.2:c.801T>G XP_016856394.1:p.Ala267=
NM_000147.5:c.1104T>G MANE Select NP_000138.2:p.Ala368=
NR_174379.1:n.1282T>G
NR_174380.1:n.1331T>G
NR_174381.1:n.1170T>G
NR_174382.1:n.1567T>G