Canonical Allele Identifier: CA339036234

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848712-C-T
• MyVariant Identifiers: chr1:g.24175202C>T (hg19) ; chr1:g.23848712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848712C>T , CM000663.2:g.23848712C>T	GRCh38
NC_000001.10:g.24175202C>T , CM000663.1:g.24175202C>T	GRCh37
NC_000001.9:g.24047789C>T	NCBI36
NG_013346.1:g.24658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1097G>A MANE Select	ENSP00000363603.3:p.Gly366Glu
ENST00000374479.3:c.1097G>A	ENSP00000363603.3:p.Gly366Glu
NM_000147.4:c.1097G>A	NP_000138.2:p.Gly366Glu
XM_005245821.1:c.722G>A	XP_005245878.1:p.Gly241Glu
XM_011541167.1:c.464G>A	XP_011539469.1:p.Gly155Glu
XM_005245821.3:c.722G>A	XP_005245878.1:p.Gly241Glu
XM_011541167.3:c.464G>A	XP_011539469.1:p.Gly155Glu
XM_017000905.2:c.794G>A	XP_016856394.1:p.Gly265Glu
NM_000147.5:c.1097G>A MANE Select	NP_000138.2:p.Gly366Glu
NR_174379.1:n.1275G>A
NR_174380.1:n.1324G>A
NR_174381.1:n.1163G>A
NR_174382.1:n.1560G>A