Canonical Allele Identifier: CA339009166
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867995-G-T
MyVariant Identifiers: chr1:g.24194485G>T (hg19) chr1:g.23867995G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867995G>T , CM000663.2:g.23867995G>T GRCh38
NC_000001.10:g.24194485G>T , CM000663.1:g.24194485G>T GRCh37
NC_000001.9:g.24067072G>T NCBI36
NG_013346.1:g.5375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.292C>A MANE Select ENSP00000363603.3:p.Pro98Thr
ENST00000374479.3:c.292C>A ENSP00000363603.3:p.Pro98Thr
NM_000147.4:c.292C>A NP_000138.2:p.Pro98Thr
XM_005245821.1:c.-258C>A XP_005245878.1:n.-258C>A
XM_005245821.3:c.-258C>A XP_005245878.1:n.-258C>A
NM_000147.5:c.292C>A MANE Select NP_000138.2:p.Pro98Thr
NR_174379.1:n.296C>A
NR_174380.1:n.296C>A
NR_174381.1:n.296C>A
NR_174382.1:n.296C>A
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