Canonical Allele Identifier: CA416626756

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175156C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848666C>T , CM000663.2:g.23848666C>T	GRCh38
NC_000001.10:g.24175156C>T , CM000663.1:g.24175156C>T	GRCh37
NC_000001.9:g.24047743C>T	NCBI36
NG_013346.1:g.24704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1143G>A MANE Select	ENSP00000363603.3:p.Lys381=
ENST00000374479.3:c.1143G>A	ENSP00000363603.3:p.Lys381=
NM_000147.4:c.1143G>A	NP_000138.2:p.Lys381=
XM_005245821.1:c.768G>A	XP_005245878.1:p.Lys256=
XM_011541167.1:c.510G>A	XP_011539469.1:p.Lys170=
XM_005245821.3:c.768G>A	XP_005245878.1:p.Lys256=
XM_011541167.3:c.510G>A	XP_011539469.1:p.Lys170=
XM_017000905.2:c.840G>A	XP_016856394.1:p.Lys280=
NM_000147.5:c.1143G>A MANE Select	NP_000138.2:p.Lys381=
NR_174379.1:n.1321G>A
NR_174380.1:n.1370G>A
NR_174381.1:n.1209G>A
NR_174382.1:n.1606G>A