Canonical Allele Identifier: CA416626803
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24175213C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848723C>A , CM000663.2:g.23848723C>A GRCh38
NC_000001.10:g.24175213C>A , CM000663.1:g.24175213C>A GRCh37
NC_000001.9:g.24047800C>A NCBI36
NG_013346.1:g.24647G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1086G>T MANE Select ENSP00000363603.3:p.Leu362=
ENST00000374479.3:c.1086G>T ENSP00000363603.3:p.Leu362=
NM_000147.4:c.1086G>T NP_000138.2:p.Leu362=
XM_005245821.1:c.711G>T XP_005245878.1:p.Leu237=
XM_011541167.1:c.453G>T XP_011539469.1:p.Leu151=
XM_005245821.3:c.711G>T XP_005245878.1:p.Leu237=
XM_011541167.3:c.453G>T XP_011539469.1:p.Leu151=
XM_017000905.2:c.783G>T XP_016856394.1:p.Leu261=
NM_000147.5:c.1086G>T MANE Select NP_000138.2:p.Leu362=
NR_174379.1:n.1264G>T
NR_174380.1:n.1313G>T
NR_174381.1:n.1152G>T
NR_174382.1:n.1549G>T