Canonical Allele Identifier: CA339036210

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175199T>C (hg19) ; chr1:g.23848709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848709T>C , CM000663.2:g.23848709T>C	GRCh38
NC_000001.10:g.24175199T>C , CM000663.1:g.24175199T>C	GRCh37
NC_000001.9:g.24047786T>C	NCBI36
NG_013346.1:g.24661A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1100A>G MANE Select	ENSP00000363603.3:p.Glu367Gly
ENST00000374479.3:c.1100A>G	ENSP00000363603.3:p.Glu367Gly
NM_000147.4:c.1100A>G	NP_000138.2:p.Glu367Gly
XM_005245821.1:c.725A>G	XP_005245878.1:p.Glu242Gly
XM_011541167.1:c.467A>G	XP_011539469.1:p.Glu156Gly
XM_005245821.3:c.725A>G	XP_005245878.1:p.Glu242Gly
XM_011541167.3:c.467A>G	XP_011539469.1:p.Glu156Gly
XM_017000905.2:c.797A>G	XP_016856394.1:p.Glu266Gly
NM_000147.5:c.1100A>G MANE Select	NP_000138.2:p.Glu367Gly
NR_174379.1:n.1278A>G
NR_174380.1:n.1327A>G
NR_174381.1:n.1166A>G
NR_174382.1:n.1563A>G