Canonical Allele Identifier: CA686441
Gene: FUCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23854504T>A
GRCh37 chr1:g.24180994T>A
gnomAD v2:
1:24180994 T / A
gnomAD v3:
1:23854504 T / A
gnomAD v4:
chr1-23854504-T-A
Joint Max Group AF 0.00001567 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar RCV:
RCV000295390
ClinVar Variation:
296887
dbSNP:
199675692
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23854504T>A , CM000663.2:g.23854504T>A GRCh38
NC_000001.10:g.24180994T>A , CM000663.1:g.24180994T>A GRCh37
NC_000001.9:g.24053581T>A NCBI36
NG_013346.1:g.18866A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.825A>T MANE Select ENSP00000363603.3:p.Gly275=
ENST00000374479.3:c.825A>T ENSP00000363603.3:p.Gly275=
NM_000147.4:c.825A>T NP_000138.2:p.Gly275=
XM_005245821.1:c.450A>T XP_005245878.1:p.Gly150=
XM_011541167.1:c.192A>T XP_011539469.1:p.Gly64=
XM_005245821.3:c.450A>T XP_005245878.1:p.Gly150=
XM_011541167.3:c.192A>T XP_011539469.1:p.Gly64=
XM_017000905.2:c.522A>T XP_016856394.1:p.Gly174=
NM_000147.5:c.825A>T MANE Select NP_000138.2:p.Gly275=
NR_174379.1:n.1003A>T
NR_174380.1:n.1052A>T
NR_174381.1:n.891A>T
NR_174382.1:n.1288A>T
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