Canonical Allele Identifier: CA339036546

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175242C>T (hg19) ; chr1:g.23848752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848752C>T , CM000663.2:g.23848752C>T	GRCh38
NC_000001.10:g.24175242C>T , CM000663.1:g.24175242C>T	GRCh37
NC_000001.9:g.24047829C>T	NCBI36
NG_013346.1:g.24618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1057G>A MANE Select	ENSP00000363603.3:p.Glu353Lys
ENST00000374479.3:c.1057G>A	ENSP00000363603.3:p.Glu353Lys
NM_000147.4:c.1057G>A	NP_000138.2:p.Glu353Lys
XM_005245821.1:c.682G>A	XP_005245878.1:p.Glu228Lys
XM_011541167.1:c.424G>A	XP_011539469.1:p.Glu142Lys
XM_005245821.3:c.682G>A	XP_005245878.1:p.Glu228Lys
XM_011541167.3:c.424G>A	XP_011539469.1:p.Glu142Lys
XM_017000905.2:c.754G>A	XP_016856394.1:p.Glu252Lys
NM_000147.5:c.1057G>A MANE Select	NP_000138.2:p.Glu353Lys
NR_174379.1:n.1235G>A
NR_174380.1:n.1284G>A
NR_174381.1:n.1123G>A
NR_174382.1:n.1520G>A