Canonical Allele Identifier: CA339004828

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23859797C>A , CM000663.2:g.23859797C>A	GRCh38
NC_000001.10:g.24186287C>A , CM000663.1:g.24186287C>A	GRCh37
NC_000001.9:g.24058874C>A	NCBI36
NG_013346.1:g.13573G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.768+1G>T MANE Select	NP_000138.2:n.768+1G>T
ENST00000374479.4:c.768+1G>T MANE Select	ENSP00000363603.3:n.768+1G>T
NM_000147.4:c.768+1G>T	NP_000138.2:n.768+1G>T
NR_174379.1:n.946+1G>T
NR_174380.1:n.995+1G>T
NR_174381.1:n.834+1G>T
NR_174382.1:n.1231+1G>T
ENST00000374479.3:c.768+1G>T	ENSP00000363603.3:n.768+1G>T
XM_005245821.1:c.393+1G>T	XP_005245878.1:n.393+1G>T
XM_005245821.3:c.393+1G>T	XP_005245878.1:n.393+1G>T
XM_011541167.1:c.135+1G>T	XP_011539469.1:n.135+1G>T
XM_011541167.3:c.135+1G>T	XP_011539469.1:n.135+1G>T
XM_017000905.2:c.465+1G>T	XP_016856394.1:n.465+1G>T