Canonical Allele Identifier: CA339038396

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854419A>G , CM000663.2:g.23854419A>G	GRCh38
NC_000001.10:g.24180909A>G , CM000663.1:g.24180909A>G	GRCh37
NC_000001.9:g.24053496A>G	NCBI36
NG_013346.1:g.18951T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.910T>C MANE Select	NP_000138.2:p.Trp304Arg
ENST00000374479.4:c.910T>C MANE Select	ENSP00000363603.3:p.Trp304Arg
NM_000147.4:c.910T>C	NP_000138.2:p.Trp304Arg
NR_174379.1:n.1088T>C
NR_174380.1:n.1137T>C
NR_174381.1:n.976T>C
NR_174382.1:n.1373T>C
ENST00000374479.3:c.910T>C	ENSP00000363603.3:p.Trp304Arg
XM_005245821.1:c.535T>C	XP_005245878.1:p.Trp179Arg
XM_005245821.3:c.535T>C	XP_005245878.1:p.Trp179Arg
XM_011541167.1:c.277T>C	XP_011539469.1:p.Trp93Arg
XM_011541167.3:c.277T>C	XP_011539469.1:p.Trp93Arg
XM_017000905.2:c.607T>C	XP_016856394.1:p.Trp203Arg