Canonical Allele Identifier: CA416626850

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175258A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848768A>T , CM000663.2:g.23848768A>T	GRCh38
NC_000001.10:g.24175258A>T , CM000663.1:g.24175258A>T	GRCh37
NC_000001.9:g.24047845A>T	NCBI36
NG_013346.1:g.24602T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1041T>A MANE Select	ENSP00000363603.3:p.Ile347=
ENST00000374479.3:c.1041T>A	ENSP00000363603.3:p.Ile347=
NM_000147.4:c.1041T>A	NP_000138.2:p.Ile347=
XM_005245821.1:c.666T>A	XP_005245878.1:p.Ile222=
XM_011541167.1:c.408T>A	XP_011539469.1:p.Ile136=
XM_005245821.3:c.666T>A	XP_005245878.1:p.Ile222=
XM_011541167.3:c.408T>A	XP_011539469.1:p.Ile136=
XM_017000905.2:c.738T>A	XP_016856394.1:p.Ile246=
NM_000147.5:c.1041T>A MANE Select	NP_000138.2:p.Ile347=
NR_174379.1:n.1219T>A
NR_174380.1:n.1268T>A
NR_174381.1:n.1107T>A
NR_174382.1:n.1504T>A