Canonical Allele Identifier: CA686555
Gene: FUCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23865622A>T
GRCh37 chr1:g.24192112A>T
gnomAD v2:
1:24192112 A / T
gnomAD v4:
chr1-23865622-A-T
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00002003 (EAS)
ClinVar Allele:
259658
ClinVar RCV:
RCV000255629
RCV002229726
ClinVar Variation:
265438
dbSNP:
781230182
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865622A>T , CM000663.2:g.23865622A>T GRCh38
NC_000001.10:g.24192112A>T , CM000663.1:g.24192112A>T GRCh37
NC_000001.9:g.24064699A>T NCBI36
NG_013346.1:g.7748T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.393T>A MANE Select ENSP00000363603.3:p.Tyr131Ter
ENST00000374479.3:c.393T>A ENSP00000363603.3:p.Tyr131Ter
NM_000147.4:c.393T>A NP_000138.2:p.Tyr131Ter
XM_005245821.1:c.18T>A XP_005245878.1:p.Tyr6Ter
XM_011541167.1:c.-241T>A XP_011539469.1:n.-241T>A
XM_005245821.3:c.18T>A XP_005245878.1:p.Tyr6Ter
XM_011541167.3:c.-241T>A XP_011539469.1:n.-241T>A
XM_017000905.2:c.90T>A XP_016856394.1:p.Tyr30Ter
NM_000147.5:c.393T>A MANE Select NP_000138.2:p.Tyr131Ter
NR_174379.1:n.571T>A
NR_174380.1:n.620T>A
NR_174381.1:n.459T>A
NR_174382.1:n.856T>A
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