Canonical Allele Identifier: CA416626785

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175192G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848702G>A , CM000663.2:g.23848702G>A	GRCh38
NC_000001.10:g.24175192G>A , CM000663.1:g.24175192G>A	GRCh37
NC_000001.9:g.24047779G>A	NCBI36
NG_013346.1:g.24668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1107C>T MANE Select	ENSP00000363603.3:p.Ile369=
ENST00000374479.3:c.1107C>T	ENSP00000363603.3:p.Ile369=
NM_000147.4:c.1107C>T	NP_000138.2:p.Ile369=
XM_005245821.1:c.732C>T	XP_005245878.1:p.Ile244=
XM_011541167.1:c.474C>T	XP_011539469.1:p.Ile158=
XM_005245821.3:c.732C>T	XP_005245878.1:p.Ile244=
XM_011541167.3:c.474C>T	XP_011539469.1:p.Ile158=
XM_017000905.2:c.804C>T	XP_016856394.1:p.Ile268=
NM_000147.5:c.1107C>T MANE Select	NP_000138.2:p.Ile369=
NR_174379.1:n.1285C>T
NR_174380.1:n.1334C>T
NR_174381.1:n.1173C>T
NR_174382.1:n.1570C>T