Canonical Allele Identifier: CA339007687

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192077G>T (hg19) ; chr1:g.23865587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865587G>T , CM000663.2:g.23865587G>T	GRCh38
NC_000001.10:g.24192077G>T , CM000663.1:g.24192077G>T	GRCh37
NC_000001.9:g.24064664G>T	NCBI36
NG_013346.1:g.7783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.428C>A MANE Select	ENSP00000363603.3:p.Thr143Lys
ENST00000374479.3:c.428C>A	ENSP00000363603.3:p.Thr143Lys
NM_000147.4:c.428C>A	NP_000138.2:p.Thr143Lys
XM_005245821.1:c.53C>A	XP_005245878.1:p.Thr18Lys
XM_011541167.1:c.-206C>A	XP_011539469.1:n.-206C>A
XM_005245821.3:c.53C>A	XP_005245878.1:p.Thr18Lys
XM_011541167.3:c.-206C>A	XP_011539469.1:n.-206C>A
XM_017000905.2:c.125C>A	XP_016856394.1:p.Thr42Lys
NM_000147.5:c.428C>A MANE Select	NP_000138.2:p.Thr143Lys
NR_174379.1:n.606C>A
NR_174380.1:n.655C>A
NR_174381.1:n.494C>A
NR_174382.1:n.891C>A