Canonical Allele Identifier: CA339036615

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175256A>T (hg19) ; chr1:g.23848766A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848766A>T , CM000663.2:g.23848766A>T	GRCh38
NC_000001.10:g.24175256A>T , CM000663.1:g.24175256A>T	GRCh37
NC_000001.9:g.24047843A>T	NCBI36
NG_013346.1:g.24604T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1043T>A MANE Select	ENSP00000363603.3:p.Val348Asp
ENST00000374479.3:c.1043T>A	ENSP00000363603.3:p.Val348Asp
NM_000147.4:c.1043T>A	NP_000138.2:p.Val348Asp
XM_005245821.1:c.668T>A	XP_005245878.1:p.Val223Asp
XM_011541167.1:c.410T>A	XP_011539469.1:p.Val137Asp
XM_005245821.3:c.668T>A	XP_005245878.1:p.Val223Asp
XM_011541167.3:c.410T>A	XP_011539469.1:p.Val137Asp
XM_017000905.2:c.740T>A	XP_016856394.1:p.Val247Asp
NM_000147.5:c.1043T>A MANE Select	NP_000138.2:p.Val348Asp
NR_174379.1:n.1221T>A
NR_174380.1:n.1270T>A
NR_174381.1:n.1109T>A
NR_174382.1:n.1506T>A