Canonical Allele Identifier: CA686472

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23859867C>T , CM000663.2:g.23859867C>T	GRCh38
NC_000001.10:g.24186357C>T , CM000663.1:g.24186357C>T	GRCh37
NC_000001.9:g.24058944C>T	NCBI36
NG_013346.1:g.13503G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.699G>A MANE Select	NP_000138.2:p.Trp233Ter
ENST00000374479.4:c.699G>A MANE Select	ENSP00000363603.3:p.Trp233Ter
NM_000147.4:c.699G>A	NP_000138.2:p.Trp233Ter
NR_174379.1:n.877G>A
NR_174380.1:n.926G>A
NR_174381.1:n.765G>A
NR_174382.1:n.1162G>A
ENST00000374479.3:c.699G>A	ENSP00000363603.3:p.Trp233Ter
XM_005245821.1:c.324G>A	XP_005245878.1:p.Trp108Ter
XM_005245821.3:c.324G>A	XP_005245878.1:p.Trp108Ter
XM_011541167.1:c.66G>A	XP_011539469.1:p.Trp22Ter
XM_011541167.3:c.66G>A	XP_011539469.1:p.Trp22Ter
XM_017000905.2:c.396G>A	XP_016856394.1:p.Trp132Ter