Canonical Allele Identifier: CA339007342

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191997T>C (hg19) ; chr1:g.23865507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865507T>C , CM000663.2:g.23865507T>C	GRCh38
NC_000001.10:g.24191997T>C , CM000663.1:g.24191997T>C	GRCh37
NC_000001.9:g.24064584T>C	NCBI36
NG_013346.1:g.7863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.508A>G MANE Select	ENSP00000363603.3:p.Thr170Ala
ENST00000374479.3:c.508A>G	ENSP00000363603.3:p.Thr170Ala
NM_000147.4:c.508A>G	NP_000138.2:p.Thr170Ala
XM_005245821.1:c.133A>G	XP_005245878.1:p.Thr45Ala
XM_011541167.1:c.-126A>G	XP_011539469.1:n.-126A>G
XM_005245821.3:c.133A>G	XP_005245878.1:p.Thr45Ala
XM_011541167.3:c.-126A>G	XP_011539469.1:n.-126A>G
XM_017000905.2:c.205A>G	XP_016856394.1:p.Thr69Ala
NM_000147.5:c.508A>G MANE Select	NP_000138.2:p.Thr170Ala
NR_174379.1:n.686A>G
NR_174380.1:n.735A>G
NR_174381.1:n.574A>G
NR_174382.1:n.971A>G