Canonical Allele Identifier: CA686375

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 875408
• ClinVar RCV Id: RCV001099227
• dbSNP Id: rs769788583
• ExAC: 1:24175275 T / C
• gnomAD v2: 1-24175275-T-C
• gnomAD v3: 1-23848785-T-C
• gnomAD v4: 1-23848785-T-C
• MyVariant Identifiers: chr1:g.24175275T>C (hg19) ; chr1:g.23848785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848785T>C , CM000663.2:g.23848785T>C	GRCh38
NC_000001.10:g.24175275T>C , CM000663.1:g.24175275T>C	GRCh37
NC_000001.9:g.24047862T>C	NCBI36
NG_013346.1:g.24585A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1024A>G MANE Select	ENSP00000363603.3:p.Thr342Ala
ENST00000374479.3:c.1024A>G	ENSP00000363603.3:p.Thr342Ala
NM_000147.4:c.1024A>G	NP_000138.2:p.Thr342Ala
XM_005245821.1:c.649A>G	XP_005245878.1:p.Thr217Ala
XM_011541167.1:c.391A>G	XP_011539469.1:p.Thr131Ala
XM_005245821.3:c.649A>G	XP_005245878.1:p.Thr217Ala
XM_011541167.3:c.391A>G	XP_011539469.1:p.Thr131Ala
XM_017000905.2:c.721A>G	XP_016856394.1:p.Thr241Ala
NM_000147.5:c.1024A>G MANE Select	NP_000138.2:p.Thr342Ala
NR_174379.1:n.1202A>G
NR_174380.1:n.1251A>G
NR_174381.1:n.1090A>G
NR_174382.1:n.1487A>G