Canonical Allele Identifier: CA339007271

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 987010
• ClinVar RCV Id: RCV001268211
• dbSNP Id: rs1639603168
• MyVariant Identifiers: chr1:g.24191980C>T (hg19) ; chr1:g.23865490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865490C>T , CM000663.2:g.23865490C>T	GRCh38
NC_000001.10:g.24191980C>T , CM000663.1:g.24191980C>T	GRCh37
NC_000001.9:g.24064567C>T	NCBI36
NG_013346.1:g.7880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.524+1G>A MANE Select	ENSP00000363603.3:n.524+1G>A
ENST00000374479.3:c.524+1G>A	ENSP00000363603.3:n.524+1G>A
NM_000147.4:c.524+1G>A	NP_000138.2:n.524+1G>A
XM_005245821.1:c.149+1G>A	XP_005245878.1:n.149+1G>A
XM_011541167.1:c.-110+1G>A	XP_011539469.1:n.-110+1G>A
XM_005245821.3:c.149+1G>A	XP_005245878.1:n.149+1G>A
XM_011541167.3:c.-110+1G>A	XP_011539469.1:n.-110+1G>A
XM_017000905.2:c.221+1G>A	XP_016856394.1:n.221+1G>A
NM_000147.5:c.524+1G>A MANE Select	NP_000138.2:n.524+1G>A
NR_174379.1:n.702+1G>A
NR_174380.1:n.751+1G>A
NR_174381.1:n.590+1G>A
NR_174382.1:n.987+1G>A