Canonical Allele Identifier: CA339036668

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175280C>T (hg19) ; chr1:g.23848790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848790C>T , CM000663.2:g.23848790C>T	GRCh38
NC_000001.10:g.24175280C>T , CM000663.1:g.24175280C>T	GRCh37
NC_000001.9:g.24047867C>T	NCBI36
NG_013346.1:g.24580G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1019G>A MANE Select	ENSP00000363603.3:p.Gly340Glu
ENST00000374479.3:c.1019G>A	ENSP00000363603.3:p.Gly340Glu
NM_000147.4:c.1019G>A	NP_000138.2:p.Gly340Glu
XM_005245821.1:c.644G>A	XP_005245878.1:p.Gly215Glu
XM_011541167.1:c.386G>A	XP_011539469.1:p.Gly129Glu
XM_005245821.3:c.644G>A	XP_005245878.1:p.Gly215Glu
XM_011541167.3:c.386G>A	XP_011539469.1:p.Gly129Glu
XM_017000905.2:c.716G>A	XP_016856394.1:p.Gly239Glu
NM_000147.5:c.1019G>A MANE Select	NP_000138.2:p.Gly340Glu
NR_174379.1:n.1197G>A
NR_174380.1:n.1246G>A
NR_174381.1:n.1085G>A
NR_174382.1:n.1482G>A