Canonical Allele Identifier: CA339036647

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175269C>T (hg19) ; chr1:g.23848779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848779C>T , CM000663.2:g.23848779C>T	GRCh38
NC_000001.10:g.24175269C>T , CM000663.1:g.24175269C>T	GRCh37
NC_000001.9:g.24047856C>T	NCBI36
NG_013346.1:g.24591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1030G>A MANE Select	ENSP00000363603.3:p.Asp344Asn
ENST00000374479.3:c.1030G>A	ENSP00000363603.3:p.Asp344Asn
NM_000147.4:c.1030G>A	NP_000138.2:p.Asp344Asn
XM_005245821.1:c.655G>A	XP_005245878.1:p.Asp219Asn
XM_011541167.1:c.397G>A	XP_011539469.1:p.Asp133Asn
XM_005245821.3:c.655G>A	XP_005245878.1:p.Asp219Asn
XM_011541167.3:c.397G>A	XP_011539469.1:p.Asp133Asn
XM_017000905.2:c.727G>A	XP_016856394.1:p.Asp243Asn
NM_000147.5:c.1030G>A MANE Select	NP_000138.2:p.Asp344Asn
NR_174379.1:n.1208G>A
NR_174380.1:n.1257G>A
NR_174381.1:n.1096G>A
NR_174382.1:n.1493G>A