Canonical Allele Identifier: CA416605400

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192076T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865586T>C , CM000663.2:g.23865586T>C	GRCh38
NC_000001.10:g.24192076T>C , CM000663.1:g.24192076T>C	GRCh37
NC_000001.9:g.24064663T>C	NCBI36
NG_013346.1:g.7784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.429A>G MANE Select	ENSP00000363603.3:p.Thr143=
ENST00000374479.3:c.429A>G	ENSP00000363603.3:p.Thr143=
NM_000147.4:c.429A>G	NP_000138.2:p.Thr143=
XM_005245821.1:c.54A>G	XP_005245878.1:p.Thr18=
XM_011541167.1:c.-205A>G	XP_011539469.1:n.-205A>G
XM_005245821.3:c.54A>G	XP_005245878.1:p.Thr18=
XM_011541167.3:c.-205A>G	XP_011539469.1:n.-205A>G
XM_017000905.2:c.126A>G	XP_016856394.1:p.Thr42=
NM_000147.5:c.429A>G MANE Select	NP_000138.2:p.Thr143=
NR_174379.1:n.607A>G
NR_174380.1:n.656A>G
NR_174381.1:n.495A>G
NR_174382.1:n.892A>G