Canonical Allele Identifier: CA686502

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23863239A>T , CM000663.2:g.23863239A>T	GRCh38
NC_000001.10:g.24189729A>T , CM000663.1:g.24189729A>T	GRCh37
NC_000001.9:g.24062316A>T	NCBI36
NG_013346.1:g.10131T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.557T>A MANE Select	NP_000138.2:p.Leu186Ter
ENST00000374479.4:c.557T>A MANE Select	ENSP00000363603.3:p.Leu186Ter
NM_000147.4:c.557T>A	NP_000138.2:p.Leu186Ter
NR_174379.1:n.735T>A
NR_174380.1:n.784T>A
NR_174381.1:n.623T>A
NR_174382.1:n.1020T>A
ENST00000374479.3:c.557T>A	ENSP00000363603.3:p.Leu186Ter
XM_005245821.1:c.182T>A	XP_005245878.1:p.Leu61Ter
XM_005245821.3:c.182T>A	XP_005245878.1:p.Leu61Ter
XM_011541167.1:c.-77T>A	XP_011539469.1:n.-77T>A
XM_011541167.3:c.-77T>A	XP_011539469.1:n.-77T>A
XM_017000905.2:c.254T>A	XP_016856394.1:p.Leu85Ter