Canonical Allele Identifier: CA339007605

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192059A>T (hg19) ; chr1:g.23865569A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865569A>T , CM000663.2:g.23865569A>T	GRCh38
NC_000001.10:g.24192059A>T , CM000663.1:g.24192059A>T	GRCh37
NC_000001.9:g.24064646A>T	NCBI36
NG_013346.1:g.7801T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.446T>A MANE Select	ENSP00000363603.3:p.Val149Glu
ENST00000374479.3:c.446T>A	ENSP00000363603.3:p.Val149Glu
NM_000147.4:c.446T>A	NP_000138.2:p.Val149Glu
XM_005245821.1:c.71T>A	XP_005245878.1:p.Val24Glu
XM_011541167.1:c.-188T>A	XP_011539469.1:n.-188T>A
XM_005245821.3:c.71T>A	XP_005245878.1:p.Val24Glu
XM_011541167.3:c.-188T>A	XP_011539469.1:n.-188T>A
XM_017000905.2:c.143T>A	XP_016856394.1:p.Val48Glu
NM_000147.5:c.446T>A MANE Select	NP_000138.2:p.Val149Glu
NR_174379.1:n.624T>A
NR_174380.1:n.673T>A
NR_174381.1:n.512T>A
NR_174382.1:n.909T>A