Canonical Allele Identifier: CA686424

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854393C>T , CM000663.2:g.23854393C>T	GRCh38
NC_000001.10:g.24180883C>T , CM000663.1:g.24180883C>T	GRCh37
NC_000001.9:g.24053470C>T	NCBI36
NG_013346.1:g.18977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.936G>A MANE Select	ENSP00000363603.3:p.Leu312=
ENST00000374479.3:c.936G>A	ENSP00000363603.3:p.Leu312=
NM_000147.4:c.936G>A	NP_000138.2:p.Leu312=
XM_005245821.1:c.561G>A	XP_005245878.1:p.Leu187=
XM_011541167.1:c.303G>A	XP_011539469.1:p.Leu101=
XM_005245821.3:c.561G>A	XP_005245878.1:p.Leu187=
XM_011541167.3:c.303G>A	XP_011539469.1:p.Leu101=
XM_017000905.2:c.633G>A	XP_016856394.1:p.Leu211=
NM_000147.5:c.936G>A MANE Select	NP_000138.2:p.Leu312=
NR_174379.1:n.1114G>A
NR_174380.1:n.1163G>A
NR_174381.1:n.1002G>A
NR_174382.1:n.1399G>A