Canonical Allele Identifier: CA339036175

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175193A>T (hg19) ; chr1:g.23848703A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848703A>T , CM000663.2:g.23848703A>T	GRCh38
NC_000001.10:g.24175193A>T , CM000663.1:g.24175193A>T	GRCh37
NC_000001.9:g.24047780A>T	NCBI36
NG_013346.1:g.24667T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1106T>A MANE Select	ENSP00000363603.3:p.Ile369Asn
ENST00000374479.3:c.1106T>A	ENSP00000363603.3:p.Ile369Asn
NM_000147.4:c.1106T>A	NP_000138.2:p.Ile369Asn
XM_005245821.1:c.731T>A	XP_005245878.1:p.Ile244Asn
XM_011541167.1:c.473T>A	XP_011539469.1:p.Ile158Asn
XM_005245821.3:c.731T>A	XP_005245878.1:p.Ile244Asn
XM_011541167.3:c.473T>A	XP_011539469.1:p.Ile158Asn
XM_017000905.2:c.803T>A	XP_016856394.1:p.Ile268Asn
NM_000147.5:c.1106T>A MANE Select	NP_000138.2:p.Ile369Asn
NR_174379.1:n.1284T>A
NR_174380.1:n.1333T>A
NR_174381.1:n.1172T>A
NR_174382.1:n.1569T>A