Canonical Allele Identifier: CA19320445

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23845790G>A , CM000663.2:g.23845790G>A	GRCh38
NC_000001.10:g.24172280G>A , CM000663.1:g.24172280G>A	GRCh37
NC_000001.9:g.24044867G>A	NCBI36
NG_013346.1:g.27580C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1326C>T MANE Select	NP_000138.2:p.Ile442=
ENST00000374479.4:c.1326C>T MANE Select	ENSP00000363603.3:p.Ile442=
NM_000147.4:c.1326C>T	NP_000138.2:p.Ile442=
NR_174379.1:n.1504C>T
NR_174380.1:n.1553C>T
NR_174381.1:n.1392C>T
NR_174382.1:n.1789C>T
ENST00000374479.3:c.1326C>T	ENSP00000363603.3:p.Ile442=
XM_005245821.1:c.951C>T	XP_005245878.1:p.Ile317=
XM_005245821.3:c.951C>T	XP_005245878.1:p.Ile317=
XM_011541167.1:c.693C>T	XP_011539469.1:p.Ile231=
XM_011541167.3:c.693C>T	XP_011539469.1:p.Ile231=
XM_017000905.2:c.1023C>T	XP_016856394.1:p.Ile341=