Canonical Allele Identifier: CA339008745

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24194424T>A (hg19) ; chr1:g.23867934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23867934T>A , CM000663.2:g.23867934T>A	GRCh38
NC_000001.10:g.24194424T>A , CM000663.1:g.24194424T>A	GRCh37
NC_000001.9:g.24067011T>A	NCBI36
NG_013346.1:g.5436A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.353A>T MANE Select	ENSP00000363603.3:p.Glu118Val
ENST00000374479.3:c.353A>T	ENSP00000363603.3:p.Glu118Val
NM_000147.4:c.353A>T	NP_000138.2:p.Glu118Val
XM_005245821.1:c.-197A>T	XP_005245878.1:n.-197A>T
XM_005245821.3:c.-197A>T	XP_005245878.1:n.-197A>T
NM_000147.5:c.353A>T MANE Select	NP_000138.2:p.Glu118Val
NR_174379.1:n.357A>T
NR_174380.1:n.357A>T
NR_174381.1:n.357A>T
NR_174382.1:n.357A>T