Canonical Allele Identifier: CA416605289

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192001C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865511C>T , CM000663.2:g.23865511C>T	GRCh38
NC_000001.10:g.24192001C>T , CM000663.1:g.24192001C>T	GRCh37
NC_000001.9:g.24064588C>T	NCBI36
NG_013346.1:g.7859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.504G>A MANE Select	ENSP00000363603.3:p.Leu168=
ENST00000374479.3:c.504G>A	ENSP00000363603.3:p.Leu168=
NM_000147.4:c.504G>A	NP_000138.2:p.Leu168=
XM_005245821.1:c.129G>A	XP_005245878.1:p.Leu43=
XM_011541167.1:c.-130G>A	XP_011539469.1:n.-130G>A
XM_005245821.3:c.129G>A	XP_005245878.1:p.Leu43=
XM_011541167.3:c.-130G>A	XP_011539469.1:n.-130G>A
XM_017000905.2:c.201G>A	XP_016856394.1:p.Leu67=
NM_000147.5:c.504G>A MANE Select	NP_000138.2:p.Leu168=
NR_174379.1:n.682G>A
NR_174380.1:n.731G>A
NR_174381.1:n.570G>A
NR_174382.1:n.967G>A