Canonical Allele Identifier: CA339035937

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848671-C-T
• MyVariant Identifiers: chr1:g.24175161C>T (hg19) ; chr1:g.23848671C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848671C>T , CM000663.2:g.23848671C>T	GRCh38
NC_000001.10:g.24175161C>T , CM000663.1:g.24175161C>T	GRCh37
NC_000001.9:g.24047748C>T	NCBI36
NG_013346.1:g.24699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1138G>A MANE Select	ENSP00000363603.3:p.Glu380Lys
ENST00000374479.3:c.1138G>A	ENSP00000363603.3:p.Glu380Lys
NM_000147.4:c.1138G>A	NP_000138.2:p.Glu380Lys
XM_005245821.1:c.763G>A	XP_005245878.1:p.Glu255Lys
XM_011541167.1:c.505G>A	XP_011539469.1:p.Glu169Lys
XM_005245821.3:c.763G>A	XP_005245878.1:p.Glu255Lys
XM_011541167.3:c.505G>A	XP_011539469.1:p.Glu169Lys
XM_017000905.2:c.835G>A	XP_016856394.1:p.Glu279Lys
NM_000147.5:c.1138G>A MANE Select	NP_000138.2:p.Glu380Lys
NR_174379.1:n.1316G>A
NR_174380.1:n.1365G>A
NR_174381.1:n.1204G>A
NR_174382.1:n.1601G>A