Canonical Allele Identifier: CA339007540

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865556C>T , CM000663.2:g.23865556C>T	GRCh38
NC_000001.10:g.24192046C>T , CM000663.1:g.24192046C>T	GRCh37
NC_000001.9:g.24064633C>T	NCBI36
NG_013346.1:g.7814G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.459G>A MANE Select	NP_000138.2:p.Trp153Ter
ENST00000374479.4:c.459G>A MANE Select	ENSP00000363603.3:p.Trp153Ter
NM_000147.4:c.459G>A	NP_000138.2:p.Trp153Ter
NR_174379.1:n.637G>A
NR_174380.1:n.686G>A
NR_174381.1:n.525G>A
NR_174382.1:n.922G>A
ENST00000374479.3:c.459G>A	ENSP00000363603.3:p.Trp153Ter
XM_005245821.1:c.84G>A	XP_005245878.1:p.Trp28Ter
XM_005245821.3:c.84G>A	XP_005245878.1:p.Trp28Ter
XM_011541167.1:c.-175G>A	XP_011539469.1:n.-175G>A
XM_011541167.3:c.-175G>A	XP_011539469.1:n.-175G>A
XM_017000905.2:c.156G>A	XP_016856394.1:p.Trp52Ter