Canonical Allele Identifier: CA339009631
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1557516996
MyVariant Identifiers: chr1:g.24194544C>T (hg19) chr1:g.23868054C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868054C>T , CM000663.2:g.23868054C>T GRCh38
NC_000001.10:g.24194544C>T , CM000663.1:g.24194544C>T GRCh37
NC_000001.9:g.24067131C>T NCBI36
NG_013346.1:g.5316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.233G>A MANE Select ENSP00000363603.3:p.Trp78Ter
ENST00000374479.3:c.233G>A ENSP00000363603.3:p.Trp78Ter
NM_000147.4:c.233G>A NP_000138.2:p.Trp78Ter
XM_005245821.1:c.-317G>A XP_005245878.1:n.-317G>A
XM_005245821.3:c.-317G>A XP_005245878.1:n.-317G>A
NM_000147.5:c.233G>A MANE Select NP_000138.2:p.Trp78Ter
NR_174379.1:n.237G>A
NR_174380.1:n.237G>A
NR_174381.1:n.237G>A
NR_174382.1:n.237G>A
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