Canonical Allele Identifier: CA416605353

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192058C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865568C>T , CM000663.2:g.23865568C>T	GRCh38
NC_000001.10:g.24192058C>T , CM000663.1:g.24192058C>T	GRCh37
NC_000001.9:g.24064645C>T	NCBI36
NG_013346.1:g.7802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.447G>A MANE Select	ENSP00000363603.3:p.Val149=
ENST00000374479.3:c.447G>A	ENSP00000363603.3:p.Val149=
NM_000147.4:c.447G>A	NP_000138.2:p.Val149=
XM_005245821.1:c.72G>A	XP_005245878.1:p.Val24=
XM_011541167.1:c.-187G>A	XP_011539469.1:n.-187G>A
XM_005245821.3:c.72G>A	XP_005245878.1:p.Val24=
XM_011541167.3:c.-187G>A	XP_011539469.1:n.-187G>A
XM_017000905.2:c.144G>A	XP_016856394.1:p.Val48=
NM_000147.5:c.447G>A MANE Select	NP_000138.2:p.Val149=
NR_174379.1:n.625G>A
NR_174380.1:n.674G>A
NR_174381.1:n.513G>A
NR_174382.1:n.910G>A