Canonical Allele Identifier: CA416605275

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2747700
• ClinVar RCV Id: RCV003495573
• gnomAD v4: 1-23865496-C-T
• MyVariant Identifiers: chr1:g.24191986C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865496C>T , CM000663.2:g.23865496C>T	GRCh38
NC_000001.10:g.24191986C>T , CM000663.1:g.24191986C>T	GRCh37
NC_000001.9:g.24064573C>T	NCBI36
NG_013346.1:g.7874G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.519G>A MANE Select	ENSP00000363603.3:p.Arg173=
ENST00000374479.3:c.519G>A	ENSP00000363603.3:p.Arg173=
NM_000147.4:c.519G>A	NP_000138.2:p.Arg173=
XM_005245821.1:c.144G>A	XP_005245878.1:p.Arg48=
XM_011541167.1:c.-115G>A	XP_011539469.1:n.-115G>A
XM_005245821.3:c.144G>A	XP_005245878.1:p.Arg48=
XM_011541167.3:c.-115G>A	XP_011539469.1:n.-115G>A
XM_017000905.2:c.216G>A	XP_016856394.1:p.Arg72=
NM_000147.5:c.519G>A MANE Select	NP_000138.2:p.Arg173=
NR_174379.1:n.697G>A
NR_174380.1:n.746G>A
NR_174381.1:n.585G>A
NR_174382.1:n.982G>A