Canonical Allele Identifier: CA339007726

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192093G>T (hg19) ; chr1:g.23865603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865603G>T , CM000663.2:g.23865603G>T	GRCh38
NC_000001.10:g.24192093G>T , CM000663.1:g.24192093G>T	GRCh37
NC_000001.9:g.24064680G>T	NCBI36
NG_013346.1:g.7767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.412C>A MANE Select	ENSP00000363603.3:p.His138Asn
ENST00000374479.3:c.412C>A	ENSP00000363603.3:p.His138Asn
NM_000147.4:c.412C>A	NP_000138.2:p.His138Asn
XM_005245821.1:c.37C>A	XP_005245878.1:p.His13Asn
XM_011541167.1:c.-222C>A	XP_011539469.1:n.-222C>A
XM_005245821.3:c.37C>A	XP_005245878.1:p.His13Asn
XM_011541167.3:c.-222C>A	XP_011539469.1:n.-222C>A
XM_017000905.2:c.109C>A	XP_016856394.1:p.His37Asn
NM_000147.5:c.412C>A MANE Select	NP_000138.2:p.His138Asn
NR_174379.1:n.590C>A
NR_174380.1:n.639C>A
NR_174381.1:n.478C>A
NR_174382.1:n.875C>A