Canonical Allele Identifier: CA686314

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846118C>A , CM000663.2:g.23846118C>A	GRCh38
NC_000001.10:g.24172608C>A , CM000663.1:g.24172608C>A	GRCh37
NC_000001.9:g.24045195C>A	NCBI36
NG_013346.1:g.27252G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1216G>T MANE Select	NP_000138.2:p.Gly406Ter
ENST00000374479.4:c.1216G>T MANE Select	ENSP00000363603.3:p.Gly406Ter
NM_000147.4:c.1216G>T	NP_000138.2:p.Gly406Ter
NR_174379.1:n.1394G>T
NR_174380.1:n.1443G>T
NR_174381.1:n.1282G>T
NR_174382.1:n.1679G>T
ENST00000374479.3:c.1216G>T	ENSP00000363603.3:p.Gly406Ter
XM_005245821.1:c.841G>T	XP_005245878.1:p.Gly281Ter
XM_005245821.3:c.841G>T	XP_005245878.1:p.Gly281Ter
XM_011541167.1:c.583G>T	XP_011539469.1:p.Gly195Ter
XM_011541167.3:c.583G>T	XP_011539469.1:p.Gly195Ter
XM_017000905.2:c.913G>T	XP_016856394.1:p.Gly305Ter