Canonical Allele Identifier: CA416691461
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs534639612
gnomAD v2: 1-24194752-G-T
gnomAD v4: 1-23868262-G-T
MyVariant Identifiers: chr1:g.24194752G>T (hg19) chr1:g.23868262G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868262G>T , CM000663.2:g.23868262G>T GRCh38
NC_000001.10:g.24194752G>T , CM000663.1:g.24194752G>T GRCh37
NC_000001.9:g.24067339G>T NCBI36
NG_013346.1:g.5108C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.25C>A MANE Select ENSP00000363603.3:p.Arg9=
ENST00000374479.3:c.25C>A ENSP00000363603.3:p.Arg9=
NM_000147.4:c.25C>A NP_000138.2:p.Arg9=
XM_005245821.1:c.-525C>A XP_005245878.1:n.-525C>A
XM_005245821.3:c.-525C>A XP_005245878.1:n.-525C>A
NM_000147.5:c.25C>A MANE Select NP_000138.2:p.Arg9=
NR_174379.1:n.29C>A
NR_174380.1:n.29C>A
NR_174381.1:n.29C>A
NR_174382.1:n.29C>A
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