Canonical Allele Identifier: CA19322839

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1343438
• ClinVar RCV Id: RCV001844456
• dbSNP Id: rs950763723
• gnomAD v4: 1-23848820-C-T
• MyVariant Identifiers: chr1:g.24175310C>T (hg19) ; chr1:g.23848820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848820C>T , CM000663.2:g.23848820C>T	GRCh38
NC_000001.10:g.24175310C>T , CM000663.1:g.24175310C>T	GRCh37
NC_000001.9:g.24047897C>T	NCBI36
NG_013346.1:g.24550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.989G>A MANE Select	ENSP00000363603.3:p.Ser330Asn
ENST00000374479.3:c.989G>A	ENSP00000363603.3:p.Ser330Asn
NM_000147.4:c.989G>A	NP_000138.2:p.Ser330Asn
XM_005245821.1:c.614G>A	XP_005245878.1:p.Ser205Asn
XM_011541167.1:c.356G>A	XP_011539469.1:p.Ser119Asn
XM_005245821.3:c.614G>A	XP_005245878.1:p.Ser205Asn
XM_011541167.3:c.356G>A	XP_011539469.1:p.Ser119Asn
XM_017000905.2:c.686G>A	XP_016856394.1:p.Ser229Asn
NM_000147.5:c.989G>A MANE Select	NP_000138.2:p.Ser330Asn
NR_174379.1:n.1167G>A
NR_174380.1:n.1216G>A
NR_174381.1:n.1055G>A
NR_174382.1:n.1452G>A