Canonical Allele Identifier: CA339036683
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848797T>A , CM000663.2:g.23848797T>A GRCh38
NC_000001.10:g.24175287T>A , CM000663.1:g.24175287T>A GRCh37
NC_000001.9:g.24047874T>A NCBI36
NG_013346.1:g.24573A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1012A>T MANE Select ENSP00000363603.3:p.Asn338Tyr
ENST00000374479.3:c.1012A>T ENSP00000363603.3:p.Asn338Tyr
NM_000147.4:c.1012A>T NP_000138.2:p.Asn338Tyr
XM_005245821.1:c.637A>T XP_005245878.1:p.Asn213Tyr
XM_011541167.1:c.379A>T XP_011539469.1:p.Asn127Tyr
XM_005245821.3:c.637A>T XP_005245878.1:p.Asn213Tyr
XM_011541167.3:c.379A>T XP_011539469.1:p.Asn127Tyr
XM_017000905.2:c.709A>T XP_016856394.1:p.Asn237Tyr
NM_000147.5:c.1012A>T MANE Select NP_000138.2:p.Asn338Tyr
NR_174379.1:n.1190A>T
NR_174380.1:n.1239A>T
NR_174381.1:n.1078A>T
NR_174382.1:n.1475A>T