Canonical Allele Identifier: CA339009405
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24194517G>T (hg19) chr1:g.23868027G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868027G>T , CM000663.2:g.23868027G>T GRCh38
NC_000001.10:g.24194517G>T , CM000663.1:g.24194517G>T GRCh37
NC_000001.9:g.24067104G>T NCBI36
NG_013346.1:g.5343C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.260C>A MANE Select ENSP00000363603.3:p.Pro87Gln
ENST00000374479.3:c.260C>A ENSP00000363603.3:p.Pro87Gln
NM_000147.4:c.260C>A NP_000138.2:p.Pro87Gln
XM_005245821.1:c.-290C>A XP_005245878.1:n.-290C>A
XM_005245821.3:c.-290C>A XP_005245878.1:n.-290C>A
NM_000147.5:c.260C>A MANE Select NP_000138.2:p.Pro87Gln
NR_174379.1:n.264C>A
NR_174380.1:n.264C>A
NR_174381.1:n.264C>A
NR_174382.1:n.264C>A
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