Canonical Allele Identifier: CA339036452

Gene: FUCA1

Linked Data

• COSMIC: COSM4030161
• MyVariant Identifiers: chr1:g.24175226A>T (hg19) ; chr1:g.23848736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848736A>T , CM000663.2:g.23848736A>T	GRCh38
NC_000001.10:g.24175226A>T , CM000663.1:g.24175226A>T	GRCh37
NC_000001.9:g.24047813A>T	NCBI36
NG_013346.1:g.24634T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1073T>A MANE Select	ENSP00000363603.3:p.Val358Asp
ENST00000374479.3:c.1073T>A	ENSP00000363603.3:p.Val358Asp
NM_000147.4:c.1073T>A	NP_000138.2:p.Val358Asp
XM_005245821.1:c.698T>A	XP_005245878.1:p.Val233Asp
XM_011541167.1:c.440T>A	XP_011539469.1:p.Val147Asp
XM_005245821.3:c.698T>A	XP_005245878.1:p.Val233Asp
XM_011541167.3:c.440T>A	XP_011539469.1:p.Val147Asp
XM_017000905.2:c.770T>A	XP_016856394.1:p.Val257Asp
NM_000147.5:c.1073T>A MANE Select	NP_000138.2:p.Val358Asp
NR_174379.1:n.1251T>A
NR_174380.1:n.1300T>A
NR_174381.1:n.1139T>A
NR_174382.1:n.1536T>A