Canonical Allele Identifier: CA686621
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs770365153
ExAC: 1:24194675 C / T
gnomAD v2: 1-24194675-C-T
gnomAD v4: 1-23868185-C-T
MyVariant Identifiers: chr1:g.24194675C>T (hg19) chr1:g.23868185C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868185C>T , CM000663.2:g.23868185C>T GRCh38
NC_000001.10:g.24194675C>T , CM000663.1:g.24194675C>T GRCh37
NC_000001.9:g.24067262C>T NCBI36
NG_013346.1:g.5185G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374479.4:c.102G>A MANE Select ENSP00000363603.3:p.Pro34=
ENST00000374479.3:c.102G>A ENSP00000363603.3:p.Pro34=
NM_000147.4:c.102G>A NP_000138.2:p.Pro34=
XM_005245821.1:c.-448G>A XP_005245878.1:n.-448G>A
XM_005245821.3:c.-448G>A XP_005245878.1:n.-448G>A
NM_000147.5:c.102G>A MANE Select NP_000138.2:p.Pro34=
NR_174379.1:n.106G>A
NR_174380.1:n.106G>A
NR_174381.1:n.106G>A
NR_174382.1:n.106G>A
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