Canonical Allele Identifier: CA339038306

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854377C>A , CM000663.2:g.23854377C>A	GRCh38
NC_000001.10:g.24180867C>A , CM000663.1:g.24180867C>A	GRCh37
NC_000001.9:g.24053454C>A	NCBI36
NG_013346.1:g.18993G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.952G>T MANE Select	NP_000138.2:p.Glu318Ter
ENST00000374479.4:c.952G>T MANE Select	ENSP00000363603.3:p.Glu318Ter
NM_000147.4:c.952G>T	NP_000138.2:p.Glu318Ter
NR_174379.1:n.1130G>T
NR_174380.1:n.1179G>T
NR_174381.1:n.1018G>T
NR_174382.1:n.1415G>T
ENST00000374479.3:c.952G>T	ENSP00000363603.3:p.Glu318Ter
XM_005245821.1:c.577G>T	XP_005245878.1:p.Glu193Ter
XM_005245821.3:c.577G>T	XP_005245878.1:p.Glu193Ter
XM_011541167.1:c.319G>T	XP_011539469.1:p.Glu107Ter
XM_011541167.3:c.319G>T	XP_011539469.1:p.Glu107Ter
XM_017000905.2:c.649G>T	XP_016856394.1:p.Glu217Ter