Canonical Allele Identifier: CA339006268

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23863217A>T , CM000663.2:g.23863217A>T	GRCh38
NC_000001.10:g.24189707A>T , CM000663.1:g.24189707A>T	GRCh37
NC_000001.9:g.24062294A>T	NCBI36
NG_013346.1:g.10153T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.579T>A MANE Select	NP_000138.2:p.Tyr193Ter
ENST00000374479.4:c.579T>A MANE Select	ENSP00000363603.3:p.Tyr193Ter
NM_000147.4:c.579T>A	NP_000138.2:p.Tyr193Ter
NR_174379.1:n.757T>A
NR_174380.1:n.806T>A
NR_174381.1:n.645T>A
NR_174382.1:n.1042T>A
ENST00000374479.3:c.579T>A	ENSP00000363603.3:p.Tyr193Ter
XM_005245821.1:c.204T>A	XP_005245878.1:p.Tyr68Ter
XM_005245821.3:c.204T>A	XP_005245878.1:p.Tyr68Ter
XM_011541167.1:c.-55T>A	XP_011539469.1:n.-55T>A
XM_011541167.3:c.-55T>A	XP_011539469.1:n.-55T>A
XM_017000905.2:c.276T>A	XP_016856394.1:p.Tyr92Ter