Canonical Allele Identifier: CA339036485

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175232A>T (hg19) ; chr1:g.23848742A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848742A>T , CM000663.2:g.23848742A>T	GRCh38
NC_000001.10:g.24175232A>T , CM000663.1:g.24175232A>T	GRCh37
NC_000001.9:g.24047819A>T	NCBI36
NG_013346.1:g.24628T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1067T>A MANE Select	ENSP00000363603.3:p.Leu356His
ENST00000374479.3:c.1067T>A	ENSP00000363603.3:p.Leu356His
NM_000147.4:c.1067T>A	NP_000138.2:p.Leu356His
XM_005245821.1:c.692T>A	XP_005245878.1:p.Leu231His
XM_011541167.1:c.434T>A	XP_011539469.1:p.Leu145His
XM_005245821.3:c.692T>A	XP_005245878.1:p.Leu231His
XM_011541167.3:c.434T>A	XP_011539469.1:p.Leu145His
XM_017000905.2:c.764T>A	XP_016856394.1:p.Leu255His
NM_000147.5:c.1067T>A MANE Select	NP_000138.2:p.Leu356His
NR_174379.1:n.1245T>A
NR_174380.1:n.1294T>A
NR_174381.1:n.1133T>A
NR_174382.1:n.1530T>A