Canonical Allele Identifier: CA686359

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848690T>C , CM000663.2:g.23848690T>C	GRCh38
NC_000001.10:g.24175180T>C , CM000663.1:g.24175180T>C	GRCh37
NC_000001.9:g.24047767T>C	NCBI36
NG_013346.1:g.24680A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1119A>G MANE Select	NP_000138.2:p.Lys373=
ENST00000374479.4:c.1119A>G MANE Select	ENSP00000363603.3:p.Lys373=
NM_000147.4:c.1119A>G	NP_000138.2:p.Lys373=
NR_174379.1:n.1297A>G
NR_174380.1:n.1346A>G
NR_174381.1:n.1185A>G
NR_174382.1:n.1582A>G
ENST00000374479.3:c.1119A>G	ENSP00000363603.3:p.Lys373=
XM_005245821.1:c.744A>G	XP_005245878.1:p.Lys248=
XM_005245821.3:c.744A>G	XP_005245878.1:p.Lys248=
XM_011541167.1:c.486A>G	XP_011539469.1:p.Lys162=
XM_011541167.3:c.486A>G	XP_011539469.1:p.Lys162=
XM_017000905.2:c.816A>G	XP_016856394.1:p.Lys272=