Canonical Allele Identifier: CA339034611

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846128C>T , CM000663.2:g.23846128C>T	GRCh38
NC_000001.10:g.24172618C>T , CM000663.1:g.24172618C>T	GRCh37
NC_000001.9:g.24045205C>T	NCBI36
NG_013346.1:g.27242G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1206G>A MANE Select	NP_000138.2:p.Trp402Ter
ENST00000374479.4:c.1206G>A MANE Select	ENSP00000363603.3:p.Trp402Ter
NM_000147.4:c.1206G>A	NP_000138.2:p.Trp402Ter
NR_174379.1:n.1384G>A
NR_174380.1:n.1433G>A
NR_174381.1:n.1272G>A
NR_174382.1:n.1669G>A
ENST00000374479.3:c.1206G>A	ENSP00000363603.3:p.Trp402Ter
XM_005245821.1:c.831G>A	XP_005245878.1:p.Trp277Ter
XM_005245821.3:c.831G>A	XP_005245878.1:p.Trp277Ter
XM_011541167.1:c.573G>A	XP_011539469.1:p.Trp191Ter
XM_011541167.3:c.573G>A	XP_011539469.1:p.Trp191Ter
XM_017000905.2:c.903G>A	XP_016856394.1:p.Trp301Ter