Canonical Allele Identifier: CA339036212

Gene: FUCA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1100A>C MANE Select	ENSP00000363603.3:p.Glu367Ala
ENST00000374479.3:c.1100A>C	ENSP00000363603.3:p.Glu367Ala
NM_000147.4:c.1100A>C	NP_000138.2:p.Glu367Ala
XM_005245821.1:c.725A>C	XP_005245878.1:p.Glu242Ala
XM_011541167.1:c.467A>C	XP_011539469.1:p.Glu156Ala
XM_005245821.3:c.725A>C	XP_005245878.1:p.Glu242Ala
XM_011541167.3:c.467A>C	XP_011539469.1:p.Glu156Ala
XM_017000905.2:c.797A>C	XP_016856394.1:p.Glu266Ala
NM_000147.5:c.1100A>C MANE Select	NP_000138.2:p.Glu367Ala
NR_174379.1:n.1278A>C
NR_174380.1:n.1327A>C
NR_174381.1:n.1166A>C
NR_174382.1:n.1563A>C