Canonical Allele Identifier: CA339007299

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191988G>C (hg19) ; chr1:g.23865498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865498G>C , CM000663.2:g.23865498G>C	GRCh38
NC_000001.10:g.24191988G>C , CM000663.1:g.24191988G>C	GRCh37
NC_000001.9:g.24064575G>C	NCBI36
NG_013346.1:g.7872C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.517C>G MANE Select	ENSP00000363603.3:p.Arg173Gly
ENST00000374479.3:c.517C>G	ENSP00000363603.3:p.Arg173Gly
NM_000147.4:c.517C>G	NP_000138.2:p.Arg173Gly
XM_005245821.1:c.142C>G	XP_005245878.1:p.Arg48Gly
XM_011541167.1:c.-117C>G	XP_011539469.1:n.-117C>G
XM_005245821.3:c.142C>G	XP_005245878.1:p.Arg48Gly
XM_011541167.3:c.-117C>G	XP_011539469.1:n.-117C>G
XM_017000905.2:c.214C>G	XP_016856394.1:p.Arg72Gly
NM_000147.5:c.517C>G MANE Select	NP_000138.2:p.Arg173Gly
NR_174379.1:n.695C>G
NR_174380.1:n.744C>G
NR_174381.1:n.583C>G
NR_174382.1:n.980C>G