Canonical Allele Identifier: CA339008991
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867971-A-C
MyVariant Identifiers: chr1:g.24194461A>C (hg19) chr1:g.23867971A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867971A>C , CM000663.2:g.23867971A>C GRCh38
NC_000001.10:g.24194461A>C , CM000663.1:g.24194461A>C GRCh37
NC_000001.9:g.24067048A>C NCBI36
NG_013346.1:g.5399T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.316T>G MANE Select ENSP00000363603.3:p.Phe106Val
ENST00000374479.3:c.316T>G ENSP00000363603.3:p.Phe106Val
NM_000147.4:c.316T>G NP_000138.2:p.Phe106Val
XM_005245821.1:c.-234T>G XP_005245878.1:n.-234T>G
XM_005245821.3:c.-234T>G XP_005245878.1:n.-234T>G
NM_000147.5:c.316T>G MANE Select NP_000138.2:p.Phe106Val
NR_174379.1:n.320T>G
NR_174380.1:n.320T>G
NR_174381.1:n.320T>G
NR_174382.1:n.320T>G
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