Canonical Allele Identifier: CA339010808
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194727A>T (hg19) chr1:g.23868237A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868237A>T , CM000663.2:g.23868237A>T GRCh38
NC_000001.10:g.24194727A>T , CM000663.1:g.24194727A>T GRCh37
NC_000001.9:g.24067314A>T NCBI36
NG_013346.1:g.5133T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.50T>A MANE Select ENSP00000363603.3:p.Leu17Gln
ENST00000374479.3:c.50T>A ENSP00000363603.3:p.Leu17Gln
NM_000147.4:c.50T>A NP_000138.2:p.Leu17Gln
XM_005245821.1:c.-500T>A XP_005245878.1:n.-500T>A
XM_005245821.3:c.-500T>A XP_005245878.1:n.-500T>A
NM_000147.5:c.50T>A MANE Select NP_000138.2:p.Leu17Gln
NR_174379.1:n.54T>A
NR_174380.1:n.54T>A
NR_174381.1:n.54T>A
NR_174382.1:n.54T>A
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