Canonical Allele Identifier: CA19322722

Gene: FUCA1

Linked Data

• dbSNP Id: rs901586547
• gnomAD v3: 1-23848724-A-T
• gnomAD v4: 1-23848724-A-T
• MyVariant Identifiers: chr1:g.24175214A>T (hg19) ; chr1:g.23848724A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848724A>T , CM000663.2:g.23848724A>T	GRCh38
NC_000001.10:g.24175214A>T , CM000663.1:g.24175214A>T	GRCh37
NC_000001.9:g.24047801A>T	NCBI36
NG_013346.1:g.24646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1085T>A MANE Select	ENSP00000363603.3:p.Leu362Gln
ENST00000374479.3:c.1085T>A	ENSP00000363603.3:p.Leu362Gln
NM_000147.4:c.1085T>A	NP_000138.2:p.Leu362Gln
XM_005245821.1:c.710T>A	XP_005245878.1:p.Leu237Gln
XM_011541167.1:c.452T>A	XP_011539469.1:p.Leu151Gln
XM_005245821.3:c.710T>A	XP_005245878.1:p.Leu237Gln
XM_011541167.3:c.452T>A	XP_011539469.1:p.Leu151Gln
XM_017000905.2:c.782T>A	XP_016856394.1:p.Leu261Gln
NM_000147.5:c.1085T>A MANE Select	NP_000138.2:p.Leu362Gln
NR_174379.1:n.1263T>A
NR_174380.1:n.1312T>A
NR_174381.1:n.1151T>A
NR_174382.1:n.1548T>A