Canonical Allele Identifier: CA2574263977

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865477C>T , CM000663.2:g.23865477C>T	GRCh38
NC_000001.10:g.24191967C>T , CM000663.1:g.24191967C>T	GRCh37
NC_000001.9:g.24064554C>T	NCBI36
NG_013346.1:g.7893G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.524+14G>A MANE Select	NP_000138.2:n.524+14G>A
ENST00000374479.4:c.524+14G>A MANE Select	ENSP00000363603.3:n.524+14G>A
NM_000147.4:c.524+14G>A	NP_000138.2:n.524+14G>A
NR_174379.1:n.702+14G>A
NR_174380.1:n.751+14G>A
NR_174381.1:n.590+14G>A
NR_174382.1:n.987+14G>A
ENST00000374479.3:c.524+14G>A	ENSP00000363603.3:n.524+14G>A
XM_005245821.1:c.149+14G>A	XP_005245878.1:n.149+14G>A
XM_005245821.3:c.149+14G>A	XP_005245878.1:n.149+14G>A
XM_011541167.1:c.-110+14G>A	XP_011539469.1:n.-110+14G>A
XM_011541167.3:c.-110+14G>A	XP_011539469.1:n.-110+14G>A
XM_017000905.2:c.221+14G>A	XP_016856394.1:n.221+14G>A