Canonical Allele Identifier: CA339009257
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194499A>T (hg19) chr1:g.23868009A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868009A>T , CM000663.2:g.23868009A>T GRCh38
NC_000001.10:g.24194499A>T , CM000663.1:g.24194499A>T GRCh37
NC_000001.9:g.24067086A>T NCBI36
NG_013346.1:g.5361T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.278T>A MANE Select ENSP00000363603.3:p.Met93Lys
ENST00000374479.3:c.278T>A ENSP00000363603.3:p.Met93Lys
NM_000147.4:c.278T>A NP_000138.2:p.Met93Lys
XM_005245821.1:c.-272T>A XP_005245878.1:n.-272T>A
XM_005245821.3:c.-272T>A XP_005245878.1:n.-272T>A
NM_000147.5:c.278T>A MANE Select NP_000138.2:p.Met93Lys
NR_174379.1:n.282T>A
NR_174380.1:n.282T>A
NR_174381.1:n.282T>A
NR_174382.1:n.282T>A
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