Canonical Allele Identifier: CA686582
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs11549095
ExAC: 1:24194439 C / A
gnomAD v2: 1-24194439-C-A
gnomAD v4: 1-23867949-C-A
MyVariant Identifiers: chr1:g.24194439C>A (hg19) chr1:g.23867949C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867949C>A , CM000663.2:g.23867949C>A GRCh38
NC_000001.10:g.24194439C>A , CM000663.1:g.24194439C>A GRCh37
NC_000001.9:g.24067026C>A NCBI36
NG_013346.1:g.5421G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.338G>T MANE Select ENSP00000363603.3:p.Arg113Leu
ENST00000374479.3:c.338G>T ENSP00000363603.3:p.Arg113Leu
NM_000147.4:c.338G>T NP_000138.2:p.Arg113Leu
XM_005245821.1:c.-212G>T XP_005245878.1:n.-212G>T
XM_005245821.3:c.-212G>T XP_005245878.1:n.-212G>T
NM_000147.5:c.338G>T MANE Select NP_000138.2:p.Arg113Leu
NR_174379.1:n.342G>T
NR_174380.1:n.342G>T
NR_174381.1:n.342G>T
NR_174382.1:n.342G>T
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