Canonical Allele Identifier: CA203204

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 198046
• ClinVar RCV Id: RCV000179259 ; RCV000724472
• dbSNP Id: rs794727774
• MyVariant Identifiers: chr1:g.24175174C>T (hg19) ; chr1:g.23848684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848684C>T , CM000663.2:g.23848684C>T	GRCh38
NC_000001.10:g.24175174C>T , CM000663.1:g.24175174C>T	GRCh37
NC_000001.9:g.24047761C>T	NCBI36
NG_013346.1:g.24686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1125G>A MANE Select	ENSP00000363603.3:p.Trp375Ter
ENST00000374479.3:c.1125G>A	ENSP00000363603.3:p.Trp375Ter
NM_000147.4:c.1125G>A	NP_000138.2:p.Trp375Ter
XM_005245821.1:c.750G>A	XP_005245878.1:p.Trp250Ter
XM_011541167.1:c.492G>A	XP_011539469.1:p.Trp164Ter
XM_005245821.3:c.750G>A	XP_005245878.1:p.Trp250Ter
XM_011541167.3:c.492G>A	XP_011539469.1:p.Trp164Ter
XM_017000905.2:c.822G>A	XP_016856394.1:p.Trp274Ter
NM_000147.5:c.1125G>A MANE Select	NP_000138.2:p.Trp375Ter
NR_174379.1:n.1303G>A
NR_174380.1:n.1352G>A
NR_174381.1:n.1191G>A
NR_174382.1:n.1588G>A