Canonical Allele Identifier: CA339036767

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2004296
• ClinVar RCV Id: RCV002816002
• MyVariant Identifiers: chr1:g.24175328T>C (hg19) ; chr1:g.23848838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848838T>C , CM000663.2:g.23848838T>C	GRCh38
NC_000001.10:g.24175328T>C , CM000663.1:g.24175328T>C	GRCh37
NC_000001.9:g.24047915T>C	NCBI36
NG_013346.1:g.24532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.971A>G MANE Select	ENSP00000363603.3:p.Glu324Gly
ENST00000374479.3:c.971A>G	ENSP00000363603.3:p.Glu324Gly
NM_000147.4:c.971A>G	NP_000138.2:p.Glu324Gly
XM_005245821.1:c.596A>G	XP_005245878.1:p.Glu199Gly
XM_011541167.1:c.338A>G	XP_011539469.1:p.Glu113Gly
XM_005245821.3:c.596A>G	XP_005245878.1:p.Glu199Gly
XM_011541167.3:c.338A>G	XP_011539469.1:p.Glu113Gly
XM_017000905.2:c.668A>G	XP_016856394.1:p.Glu223Gly
NM_000147.5:c.971A>G MANE Select	NP_000138.2:p.Glu324Gly
NR_174379.1:n.1149A>G
NR_174380.1:n.1198A>G
NR_174381.1:n.1037A>G
NR_174382.1:n.1434A>G