Canonical Allele Identifier: CA339010902
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1639667884
gnomAD v3: 1-23868252-C-T
gnomAD v4: 1-23868252-C-T
MyVariant Identifiers: chr1:g.24194742C>T (hg19) chr1:g.23868252C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868252C>T , CM000663.2:g.23868252C>T GRCh38
NC_000001.10:g.24194742C>T , CM000663.1:g.24194742C>T GRCh37
NC_000001.9:g.24067329C>T NCBI36
NG_013346.1:g.5118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.35G>A MANE Select ENSP00000363603.3:p.Gly12Asp
ENST00000374479.3:c.35G>A ENSP00000363603.3:p.Gly12Asp
NM_000147.4:c.35G>A NP_000138.2:p.Gly12Asp
XM_005245821.1:c.-515G>A XP_005245878.1:n.-515G>A
XM_005245821.3:c.-515G>A XP_005245878.1:n.-515G>A
NM_000147.5:c.35G>A MANE Select NP_000138.2:p.Gly12Asp
NR_174379.1:n.39G>A
NR_174380.1:n.39G>A
NR_174381.1:n.39G>A
NR_174382.1:n.39G>A
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