Canonical Allele Identifier: CA339034230

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23845856C>T , CM000663.2:g.23845856C>T	GRCh38
NC_000001.10:g.24172346C>T , CM000663.1:g.24172346C>T	GRCh37
NC_000001.9:g.24044933C>T	NCBI36
NG_013346.1:g.27514G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1261-1G>A MANE Select	NP_000138.2:n.1261-1G>A
ENST00000374479.4:c.1261-1G>A MANE Select	ENSP00000363603.3:n.1261-1G>A
NM_000147.4:c.1261-1G>A	NP_000138.2:n.1261-1G>A
NR_174379.1:n.1439-1G>A
NR_174380.1:n.1488-1G>A
NR_174381.1:n.1327-1G>A
NR_174382.1:n.1724-1G>A
ENST00000374479.3:c.1261-1G>A	ENSP00000363603.3:n.1261-1G>A
XM_005245821.1:c.886-1G>A	XP_005245878.1:n.886-1G>A
XM_005245821.3:c.886-1G>A	XP_005245878.1:n.886-1G>A
XM_011541167.1:c.628-1G>A	XP_011539469.1:n.628-1G>A
XM_011541167.3:c.628-1G>A	XP_011539469.1:n.628-1G>A
XM_017000905.2:c.958-1G>A	XP_016856394.1:n.958-1G>A