Canonical Allele Identifier: CA416691252
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194660T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868170T>C , CM000663.2:g.23868170T>C GRCh38
NC_000001.10:g.24194660T>C , CM000663.1:g.24194660T>C GRCh37
NC_000001.9:g.24067247T>C NCBI36
NG_013346.1:g.5200A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.117A>G MANE Select ENSP00000363603.3:p.Pro39=
ENST00000374479.3:c.117A>G ENSP00000363603.3:p.Pro39=
NM_000147.4:c.117A>G NP_000138.2:p.Pro39=
XM_005245821.1:c.-433A>G XP_005245878.1:n.-433A>G
XM_005245821.3:c.-433A>G XP_005245878.1:n.-433A>G
NM_000147.5:c.117A>G MANE Select NP_000138.2:p.Pro39=
NR_174379.1:n.121A>G
NR_174380.1:n.121A>G
NR_174381.1:n.121A>G
NR_174382.1:n.121A>G