Canonical Allele Identifier: CA686500

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23863233C>T , CM000663.2:g.23863233C>T	GRCh38
NC_000001.10:g.24189723C>T , CM000663.1:g.24189723C>T	GRCh37
NC_000001.9:g.24062310C>T	NCBI36
NG_013346.1:g.10137G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.563G>A MANE Select	NP_000138.2:p.Trp188Ter
ENST00000374479.4:c.563G>A MANE Select	ENSP00000363603.3:p.Trp188Ter
NM_000147.4:c.563G>A	NP_000138.2:p.Trp188Ter
NR_174379.1:n.741G>A
NR_174380.1:n.790G>A
NR_174381.1:n.629G>A
NR_174382.1:n.1026G>A
ENST00000374479.3:c.563G>A	ENSP00000363603.3:p.Trp188Ter
XM_005245821.1:c.188G>A	XP_005245878.1:p.Trp63Ter
XM_005245821.3:c.188G>A	XP_005245878.1:p.Trp63Ter
XM_011541167.1:c.-71G>A	XP_011539469.1:n.-71G>A
XM_011541167.3:c.-71G>A	XP_011539469.1:n.-71G>A
XM_017000905.2:c.260G>A	XP_016856394.1:p.Trp87Ter