Canonical Allele Identifier: CA2959323878

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848870C>A , CM000663.2:g.23848870C>A	GRCh38
NC_000001.10:g.24175360C>A , CM000663.1:g.24175360C>A	GRCh37
NC_000001.9:g.24047947C>A	NCBI36
NG_013346.1:g.24500G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.970-31G>T MANE Select	NP_000138.2:n.970-31G>T
ENST00000374479.4:c.970-31G>T MANE Select	ENSP00000363603.3:n.970-31G>T
NM_000147.4:c.970-31G>T	NP_000138.2:n.970-31G>T
NR_174379.1:n.1148-31G>T
NR_174380.1:n.1197-31G>T
NR_174381.1:n.1036-31G>T
NR_174382.1:n.1433-31G>T
ENST00000374479.3:c.970-31G>T	ENSP00000363603.3:n.970-31G>T
XM_005245821.1:c.595-31G>T	XP_005245878.1:n.595-31G>T
XM_005245821.3:c.595-31G>T	XP_005245878.1:n.595-31G>T
XM_011541167.1:c.337-31G>T	XP_011539469.1:n.337-31G>T
XM_011541167.3:c.337-31G>T	XP_011539469.1:n.337-31G>T
XM_017000905.2:c.667-31G>T	XP_016856394.1:n.667-31G>T