Canonical Allele Identifier: CA339036310

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175210G>T (hg19) ; chr1:g.23848720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848720G>T , CM000663.2:g.23848720G>T	GRCh38
NC_000001.10:g.24175210G>T , CM000663.1:g.24175210G>T	GRCh37
NC_000001.9:g.24047797G>T	NCBI36
NG_013346.1:g.24650C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1089C>A MANE Select	ENSP00000363603.3:p.Ser363Arg
ENST00000374479.3:c.1089C>A	ENSP00000363603.3:p.Ser363Arg
NM_000147.4:c.1089C>A	NP_000138.2:p.Ser363Arg
XM_005245821.1:c.714C>A	XP_005245878.1:p.Ser238Arg
XM_011541167.1:c.456C>A	XP_011539469.1:p.Ser152Arg
XM_005245821.3:c.714C>A	XP_005245878.1:p.Ser238Arg
XM_011541167.3:c.456C>A	XP_011539469.1:p.Ser152Arg
XM_017000905.2:c.786C>A	XP_016856394.1:p.Ser262Arg
NM_000147.5:c.1089C>A MANE Select	NP_000138.2:p.Ser363Arg
NR_174379.1:n.1267C>A
NR_174380.1:n.1316C>A
NR_174381.1:n.1155C>A
NR_174382.1:n.1552C>A