Canonical Allele Identifier: CA339036567

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175246G>T (hg19) ; chr1:g.23848756G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848756G>T , CM000663.2:g.23848756G>T	GRCh38
NC_000001.10:g.24175246G>T , CM000663.1:g.24175246G>T	GRCh37
NC_000001.9:g.24047833G>T	NCBI36
NG_013346.1:g.24614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1053C>A MANE Select	ENSP00000363603.3:p.Phe351Leu
ENST00000374479.3:c.1053C>A	ENSP00000363603.3:p.Phe351Leu
NM_000147.4:c.1053C>A	NP_000138.2:p.Phe351Leu
XM_005245821.1:c.678C>A	XP_005245878.1:p.Phe226Leu
XM_011541167.1:c.420C>A	XP_011539469.1:p.Phe140Leu
XM_005245821.3:c.678C>A	XP_005245878.1:p.Phe226Leu
XM_011541167.3:c.420C>A	XP_011539469.1:p.Phe140Leu
XM_017000905.2:c.750C>A	XP_016856394.1:p.Phe250Leu
NM_000147.5:c.1053C>A MANE Select	NP_000138.2:p.Phe351Leu
NR_174379.1:n.1231C>A
NR_174380.1:n.1280C>A
NR_174381.1:n.1119C>A
NR_174382.1:n.1516C>A