Canonical Allele Identifier: CA416626818

Gene: FUCA1

Linked Data

• dbSNP Id: rs1303758657
• gnomAD v2: 1-24175225-A-T
• gnomAD v4: 1-23848735-A-T
• MyVariant Identifiers: chr1:g.24175225A>T (hg19) ; chr1:g.23848735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848735A>T , CM000663.2:g.23848735A>T	GRCh38
NC_000001.10:g.24175225A>T , CM000663.1:g.24175225A>T	GRCh37
NC_000001.9:g.24047812A>T	NCBI36
NG_013346.1:g.24635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1074T>A MANE Select	ENSP00000363603.3:p.Val358=
ENST00000374479.3:c.1074T>A	ENSP00000363603.3:p.Val358=
NM_000147.4:c.1074T>A	NP_000138.2:p.Val358=
XM_005245821.1:c.699T>A	XP_005245878.1:p.Val233=
XM_011541167.1:c.441T>A	XP_011539469.1:p.Val147=
XM_005245821.3:c.699T>A	XP_005245878.1:p.Val233=
XM_011541167.3:c.441T>A	XP_011539469.1:p.Val147=
XM_017000905.2:c.771T>A	XP_016856394.1:p.Val257=
NM_000147.5:c.1074T>A MANE Select	NP_000138.2:p.Val358=
NR_174379.1:n.1252T>A
NR_174380.1:n.1301T>A
NR_174381.1:n.1140T>A
NR_174382.1:n.1537T>A