Canonical Allele Identifier: CA339036553

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175244T>C (hg19) ; chr1:g.23848754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848754T>C , CM000663.2:g.23848754T>C	GRCh38
NC_000001.10:g.24175244T>C , CM000663.1:g.24175244T>C	GRCh37
NC_000001.9:g.24047831T>C	NCBI36
NG_013346.1:g.24616A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1055A>G MANE Select	ENSP00000363603.3:p.Gln352Arg
ENST00000374479.3:c.1055A>G	ENSP00000363603.3:p.Gln352Arg
NM_000147.4:c.1055A>G	NP_000138.2:p.Gln352Arg
XM_005245821.1:c.680A>G	XP_005245878.1:p.Gln227Arg
XM_011541167.1:c.422A>G	XP_011539469.1:p.Gln141Arg
XM_005245821.3:c.680A>G	XP_005245878.1:p.Gln227Arg
XM_011541167.3:c.422A>G	XP_011539469.1:p.Gln141Arg
XM_017000905.2:c.752A>G	XP_016856394.1:p.Gln251Arg
NM_000147.5:c.1055A>G MANE Select	NP_000138.2:p.Gln352Arg
NR_174379.1:n.1233A>G
NR_174380.1:n.1282A>G
NR_174381.1:n.1121A>G
NR_174382.1:n.1518A>G