Canonical Allele Identifier: CA686544
Gene: FUCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23865582A>G
GRCh37 chr1:g.24192072A>G
Revel Score:
ENST00000374479 (MANE Select) 0.803
gnomAD v2:
1:24192072 A / G
gnomAD v3:
1:23865582 A / G
gnomAD v4:
chr1-23865582-A-G
Joint Max Group AF 0.00173582 (NFE)
Genomes Max Group AF 0.00184832 (NFE)
Exomes Max Group AF 0.00171436 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865582A>G , CM000663.2:g.23865582A>G GRCh38
NC_000001.10:g.24192072A>G , CM000663.1:g.24192072A>G GRCh37
NC_000001.9:g.24064659A>G NCBI36
NG_013346.1:g.7788T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.433T>C MANE Select ENSP00000363603.3:p.Trp145Arg
ENST00000374479.3:c.433T>C ENSP00000363603.3:p.Trp145Arg
NM_000147.4:c.433T>C NP_000138.2:p.Trp145Arg
XM_005245821.1:c.58T>C XP_005245878.1:p.Trp20Arg
XM_011541167.1:c.-201T>C XP_011539469.1:n.-201T>C
XM_005245821.3:c.58T>C XP_005245878.1:p.Trp20Arg
XM_011541167.3:c.-201T>C XP_011539469.1:n.-201T>C
XM_017000905.2:c.130T>C XP_016856394.1:p.Trp44Arg
NM_000147.5:c.433T>C MANE Select NP_000138.2:p.Trp145Arg
NR_174379.1:n.611T>C
NR_174380.1:n.660T>C
NR_174381.1:n.499T>C
NR_174382.1:n.896T>C
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