Canonical Allele Identifier: CA339005144

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23859868C>T , CM000663.2:g.23859868C>T	GRCh38
NC_000001.10:g.24186358C>T , CM000663.1:g.24186358C>T	GRCh37
NC_000001.9:g.24058945C>T	NCBI36
NG_013346.1:g.13502G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.698G>A MANE Select	NP_000138.2:p.Trp233Ter
ENST00000374479.4:c.698G>A MANE Select	ENSP00000363603.3:p.Trp233Ter
NM_000147.4:c.698G>A	NP_000138.2:p.Trp233Ter
NR_174379.1:n.876G>A
NR_174380.1:n.925G>A
NR_174381.1:n.764G>A
NR_174382.1:n.1161G>A
ENST00000374479.3:c.698G>A	ENSP00000363603.3:p.Trp233Ter
XM_005245821.1:c.323G>A	XP_005245878.1:p.Trp108Ter
XM_005245821.3:c.323G>A	XP_005245878.1:p.Trp108Ter
XM_011541167.1:c.65G>A	XP_011539469.1:p.Trp22Ter
XM_011541167.3:c.65G>A	XP_011539469.1:p.Trp22Ter
XM_017000905.2:c.395G>A	XP_016856394.1:p.Trp132Ter