Canonical Allele Identifier: CA339007688

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192078T>A (hg19) ; chr1:g.23865588T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865588T>A , CM000663.2:g.23865588T>A	GRCh38
NC_000001.10:g.24192078T>A , CM000663.1:g.24192078T>A	GRCh37
NC_000001.9:g.24064665T>A	NCBI36
NG_013346.1:g.7782A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.427A>T MANE Select	ENSP00000363603.3:p.Thr143Ser
ENST00000374479.3:c.427A>T	ENSP00000363603.3:p.Thr143Ser
NM_000147.4:c.427A>T	NP_000138.2:p.Thr143Ser
XM_005245821.1:c.52A>T	XP_005245878.1:p.Thr18Ser
XM_011541167.1:c.-207A>T	XP_011539469.1:n.-207A>T
XM_005245821.3:c.52A>T	XP_005245878.1:p.Thr18Ser
XM_011541167.3:c.-207A>T	XP_011539469.1:n.-207A>T
XM_017000905.2:c.124A>T	XP_016856394.1:p.Thr42Ser
NM_000147.5:c.427A>T MANE Select	NP_000138.2:p.Thr143Ser
NR_174379.1:n.605A>T
NR_174380.1:n.654A>T
NR_174381.1:n.493A>T
NR_174382.1:n.890A>T