Canonical Allele Identifier: CA339007699

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192083C>T (hg19) ; chr1:g.23865593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865593C>T , CM000663.2:g.23865593C>T	GRCh38
NC_000001.10:g.24192083C>T , CM000663.1:g.24192083C>T	GRCh37
NC_000001.9:g.24064670C>T	NCBI36
NG_013346.1:g.7777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.422G>A MANE Select	ENSP00000363603.3:p.Gly141Asp
ENST00000374479.3:c.422G>A	ENSP00000363603.3:p.Gly141Asp
NM_000147.4:c.422G>A	NP_000138.2:p.Gly141Asp
XM_005245821.1:c.47G>A	XP_005245878.1:p.Gly16Asp
XM_011541167.1:c.-212G>A	XP_011539469.1:n.-212G>A
XM_005245821.3:c.47G>A	XP_005245878.1:p.Gly16Asp
XM_011541167.3:c.-212G>A	XP_011539469.1:n.-212G>A
XM_017000905.2:c.119G>A	XP_016856394.1:p.Gly40Asp
NM_000147.5:c.422G>A MANE Select	NP_000138.2:p.Gly141Asp
NR_174379.1:n.600G>A
NR_174380.1:n.649G>A
NR_174381.1:n.488G>A
NR_174382.1:n.885G>A