Canonical Allele Identifier: CA19279638

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23863245G>C , CM000663.2:g.23863245G>C	GRCh38
NC_000001.10:g.24189735G>C , CM000663.1:g.24189735G>C	GRCh37
NC_000001.9:g.24062322G>C	NCBI36
NG_013346.1:g.10125C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.551C>G MANE Select	NP_000138.2:p.Ser184Ter
ENST00000374479.4:c.551C>G MANE Select	ENSP00000363603.3:p.Ser184Ter
NM_000147.4:c.551C>G	NP_000138.2:p.Ser184Ter
NR_174379.1:n.729C>G
NR_174380.1:n.778C>G
NR_174381.1:n.617C>G
NR_174382.1:n.1014C>G
ENST00000374479.3:c.551C>G	ENSP00000363603.3:p.Ser184Ter
XM_005245821.1:c.176C>G	XP_005245878.1:p.Ser59Ter
XM_005245821.3:c.176C>G	XP_005245878.1:p.Ser59Ter
XM_011541167.1:c.-83C>G	XP_011539469.1:n.-83C>G
XM_011541167.3:c.-83C>G	XP_011539469.1:n.-83C>G
XM_017000905.2:c.248C>G	XP_016856394.1:p.Ser83Ter