Canonical Allele Identifier: CA339035779

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175142A>T (hg19) ; chr1:g.23848652A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848652A>T , CM000663.2:g.23848652A>T	GRCh38
NC_000001.10:g.24175142A>T , CM000663.1:g.24175142A>T	GRCh37
NC_000001.9:g.24047729A>T	NCBI36
NG_013346.1:g.24718T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1157T>A MANE Select	ENSP00000363603.3:p.Val386Glu
ENST00000374479.3:c.1157T>A	ENSP00000363603.3:p.Val386Glu
NM_000147.4:c.1157T>A	NP_000138.2:p.Val386Glu
XM_005245821.1:c.782T>A	XP_005245878.1:p.Val261Glu
XM_011541167.1:c.524T>A	XP_011539469.1:p.Val175Glu
XM_005245821.3:c.782T>A	XP_005245878.1:p.Val261Glu
XM_011541167.3:c.524T>A	XP_011539469.1:p.Val175Glu
XM_017000905.2:c.854T>A	XP_016856394.1:p.Val285Glu
NM_000147.5:c.1157T>A MANE Select	NP_000138.2:p.Val386Glu
NR_174379.1:n.1335T>A
NR_174380.1:n.1384T>A
NR_174381.1:n.1223T>A
NR_174382.1:n.1620T>A