Canonical Allele Identifier: CA339036629

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175260T>A (hg19) ; chr1:g.23848770T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848770T>A , CM000663.2:g.23848770T>A	GRCh38
NC_000001.10:g.24175260T>A , CM000663.1:g.24175260T>A	GRCh37
NC_000001.9:g.24047847T>A	NCBI36
NG_013346.1:g.24600A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1039A>T MANE Select	ENSP00000363603.3:p.Ile347Phe
ENST00000374479.3:c.1039A>T	ENSP00000363603.3:p.Ile347Phe
NM_000147.4:c.1039A>T	NP_000138.2:p.Ile347Phe
XM_005245821.1:c.664A>T	XP_005245878.1:p.Ile222Phe
XM_011541167.1:c.406A>T	XP_011539469.1:p.Ile136Phe
XM_005245821.3:c.664A>T	XP_005245878.1:p.Ile222Phe
XM_011541167.3:c.406A>T	XP_011539469.1:p.Ile136Phe
XM_017000905.2:c.736A>T	XP_016856394.1:p.Ile246Phe
NM_000147.5:c.1039A>T MANE Select	NP_000138.2:p.Ile347Phe
NR_174379.1:n.1217A>T
NR_174380.1:n.1266A>T
NR_174381.1:n.1105A>T
NR_174382.1:n.1502A>T