Canonical Allele Identifier: CA339036618

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639196117
• gnomAD v4: 1-23848767-C-A
• MyVariant Identifiers: chr1:g.24175257C>A (hg19) ; chr1:g.23848767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848767C>A , CM000663.2:g.23848767C>A	GRCh38
NC_000001.10:g.24175257C>A , CM000663.1:g.24175257C>A	GRCh37
NC_000001.9:g.24047844C>A	NCBI36
NG_013346.1:g.24603G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1042G>T MANE Select	ENSP00000363603.3:p.Val348Phe
ENST00000374479.3:c.1042G>T	ENSP00000363603.3:p.Val348Phe
NM_000147.4:c.1042G>T	NP_000138.2:p.Val348Phe
XM_005245821.1:c.667G>T	XP_005245878.1:p.Val223Phe
XM_011541167.1:c.409G>T	XP_011539469.1:p.Val137Phe
XM_005245821.3:c.667G>T	XP_005245878.1:p.Val223Phe
XM_011541167.3:c.409G>T	XP_011539469.1:p.Val137Phe
XM_017000905.2:c.739G>T	XP_016856394.1:p.Val247Phe
NM_000147.5:c.1042G>T MANE Select	NP_000138.2:p.Val348Phe
NR_174379.1:n.1220G>T
NR_174380.1:n.1269G>T
NR_174381.1:n.1108G>T
NR_174382.1:n.1505G>T