Canonical Allele Identifier: CA339036671

Gene: FUCA1

Linked Data

• dbSNP Id: rs1445543147
• gnomAD v2: 1-24175281-C-T
• gnomAD v3: 1-23848791-C-T
• gnomAD v4: 1-23848791-C-T
• MyVariant Identifiers: chr1:g.24175281C>T (hg19) ; chr1:g.23848791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848791C>T , CM000663.2:g.23848791C>T	GRCh38
NC_000001.10:g.24175281C>T , CM000663.1:g.24175281C>T	GRCh37
NC_000001.9:g.24047868C>T	NCBI36
NG_013346.1:g.24579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1018G>A MANE Select	ENSP00000363603.3:p.Gly340Arg
ENST00000374479.3:c.1018G>A	ENSP00000363603.3:p.Gly340Arg
NM_000147.4:c.1018G>A	NP_000138.2:p.Gly340Arg
XM_005245821.1:c.643G>A	XP_005245878.1:p.Gly215Arg
XM_011541167.1:c.385G>A	XP_011539469.1:p.Gly129Arg
XM_005245821.3:c.643G>A	XP_005245878.1:p.Gly215Arg
XM_011541167.3:c.385G>A	XP_011539469.1:p.Gly129Arg
XM_017000905.2:c.715G>A	XP_016856394.1:p.Gly239Arg
NM_000147.5:c.1018G>A MANE Select	NP_000138.2:p.Gly340Arg
NR_174379.1:n.1196G>A
NR_174380.1:n.1245G>A
NR_174381.1:n.1084G>A
NR_174382.1:n.1481G>A