Canonical Allele Identifier: CA416626782
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24175186G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848696G>T , CM000663.2:g.23848696G>T GRCh38
NC_000001.10:g.24175186G>T , CM000663.1:g.24175186G>T GRCh37
NC_000001.9:g.24047773G>T NCBI36
NG_013346.1:g.24674C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1113C>A MANE Select ENSP00000363603.3:p.Ala371=
ENST00000374479.3:c.1113C>A ENSP00000363603.3:p.Ala371=
NM_000147.4:c.1113C>A NP_000138.2:p.Ala371=
XM_005245821.1:c.738C>A XP_005245878.1:p.Ala246=
XM_011541167.1:c.480C>A XP_011539469.1:p.Ala160=
XM_005245821.3:c.738C>A XP_005245878.1:p.Ala246=
XM_011541167.3:c.480C>A XP_011539469.1:p.Ala160=
XM_017000905.2:c.810C>A XP_016856394.1:p.Ala270=
NM_000147.5:c.1113C>A MANE Select NP_000138.2:p.Ala371=
NR_174379.1:n.1291C>A
NR_174380.1:n.1340C>A
NR_174381.1:n.1179C>A
NR_174382.1:n.1576C>A