Canonical Allele Identifier: CA339036505

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175236G>A (hg19) ; chr1:g.23848746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848746G>A , CM000663.2:g.23848746G>A	GRCh38
NC_000001.10:g.24175236G>A , CM000663.1:g.24175236G>A	GRCh37
NC_000001.9:g.24047823G>A	NCBI36
NG_013346.1:g.24624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1063C>T MANE Select	ENSP00000363603.3:p.Leu355Phe
ENST00000374479.3:c.1063C>T	ENSP00000363603.3:p.Leu355Phe
NM_000147.4:c.1063C>T	NP_000138.2:p.Leu355Phe
XM_005245821.1:c.688C>T	XP_005245878.1:p.Leu230Phe
XM_011541167.1:c.430C>T	XP_011539469.1:p.Leu144Phe
XM_005245821.3:c.688C>T	XP_005245878.1:p.Leu230Phe
XM_011541167.3:c.430C>T	XP_011539469.1:p.Leu144Phe
XM_017000905.2:c.760C>T	XP_016856394.1:p.Leu254Phe
NM_000147.5:c.1063C>T MANE Select	NP_000138.2:p.Leu355Phe
NR_174379.1:n.1241C>T
NR_174380.1:n.1290C>T
NR_174381.1:n.1129C>T
NR_174382.1:n.1526C>T