Canonical Allele Identifier: CA339034248

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846072A>T , CM000663.2:g.23846072A>T	GRCh38
NC_000001.10:g.24172562A>T , CM000663.1:g.24172562A>T	GRCh37
NC_000001.9:g.24045149A>T	NCBI36
NG_013346.1:g.27298T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1260+2T>A MANE Select	NP_000138.2:n.1260+2T>A
ENST00000374479.4:c.1260+2T>A MANE Select	ENSP00000363603.3:n.1260+2T>A
NM_000147.4:c.1260+2T>A	NP_000138.2:n.1260+2T>A
NR_174379.1:n.1438+2T>A
NR_174380.1:n.1487+2T>A
NR_174381.1:n.1326+2T>A
NR_174382.1:n.1723+2T>A
ENST00000374479.3:c.1260+2T>A	ENSP00000363603.3:n.1260+2T>A
XM_005245821.1:c.885+2T>A	XP_005245878.1:n.885+2T>A
XM_005245821.3:c.885+2T>A	XP_005245878.1:n.885+2T>A
XM_011541167.1:c.627+2T>A	XP_011539469.1:n.627+2T>A
XM_011541167.3:c.627+2T>A	XP_011539469.1:n.627+2T>A
XM_017000905.2:c.957+2T>A	XP_016856394.1:n.957+2T>A