Canonical Allele Identifier: CA686551

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 296891
• ClinVar RCV Id: RCV000337682 ; RCV003409449
• dbSNP Id: rs145153173
• ExAC: 1:24192100 C / T
• gnomAD v2: 1-24192100-C-T
• gnomAD v3: 1-23865610-C-T
• gnomAD v4: 1-23865610-C-T
• MyVariant Identifiers: chr1:g.24192100C>T (hg19) ; chr1:g.23865610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865610C>T , CM000663.2:g.23865610C>T	GRCh38
NC_000001.10:g.24192100C>T , CM000663.1:g.24192100C>T	GRCh37
NC_000001.9:g.24064687C>T	NCBI36
NG_013346.1:g.7760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.405G>A MANE Select	ENSP00000363603.3:p.Thr135=
ENST00000374479.3:c.405G>A	ENSP00000363603.3:p.Thr135=
NM_000147.4:c.405G>A	NP_000138.2:p.Thr135=
XM_005245821.1:c.30G>A	XP_005245878.1:p.Thr10=
XM_011541167.1:c.-229G>A	XP_011539469.1:n.-229G>A
XM_005245821.3:c.30G>A	XP_005245878.1:p.Thr10=
XM_011541167.3:c.-229G>A	XP_011539469.1:n.-229G>A
XM_017000905.2:c.102G>A	XP_016856394.1:p.Thr34=
NM_000147.5:c.405G>A MANE Select	NP_000138.2:p.Thr135=
NR_174379.1:n.583G>A
NR_174380.1:n.632G>A
NR_174381.1:n.471G>A
NR_174382.1:n.868G>A