Canonical Allele Identifier: CA416626800

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175207G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848717G>T , CM000663.2:g.23848717G>T	GRCh38
NC_000001.10:g.24175207G>T , CM000663.1:g.24175207G>T	GRCh37
NC_000001.9:g.24047794G>T	NCBI36
NG_013346.1:g.24653C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1092C>A MANE Select	ENSP00000363603.3:p.Ile364=
ENST00000374479.3:c.1092C>A	ENSP00000363603.3:p.Ile364=
NM_000147.4:c.1092C>A	NP_000138.2:p.Ile364=
XM_005245821.1:c.717C>A	XP_005245878.1:p.Ile239=
XM_011541167.1:c.459C>A	XP_011539469.1:p.Ile153=
XM_005245821.3:c.717C>A	XP_005245878.1:p.Ile239=
XM_011541167.3:c.459C>A	XP_011539469.1:p.Ile153=
XM_017000905.2:c.789C>A	XP_016856394.1:p.Ile263=
NM_000147.5:c.1092C>A MANE Select	NP_000138.2:p.Ile364=
NR_174379.1:n.1270C>A
NR_174380.1:n.1319C>A
NR_174381.1:n.1158C>A
NR_174382.1:n.1555C>A