Canonical Allele Identifier: CA686431

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854424A>G , CM000663.2:g.23854424A>G	GRCh38
NC_000001.10:g.24180914A>G , CM000663.1:g.24180914A>G	GRCh37
NC_000001.9:g.24053501A>G	NCBI36
NG_013346.1:g.18946T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.905T>C MANE Select	NP_000138.2:p.Phe302Ser
ENST00000374479.4:c.905T>C MANE Select	ENSP00000363603.3:p.Phe302Ser
NM_000147.4:c.905T>C	NP_000138.2:p.Phe302Ser
NR_174379.1:n.1083T>C
NR_174380.1:n.1132T>C
NR_174381.1:n.971T>C
NR_174382.1:n.1368T>C
ENST00000374479.3:c.905T>C	ENSP00000363603.3:p.Phe302Ser
XM_005245821.1:c.530T>C	XP_005245878.1:p.Phe177Ser
XM_005245821.3:c.530T>C	XP_005245878.1:p.Phe177Ser
XM_011541167.1:c.272T>C	XP_011539469.1:p.Phe91Ser
XM_011541167.3:c.272T>C	XP_011539469.1:p.Phe91Ser
XM_017000905.2:c.602T>C	XP_016856394.1:p.Phe201Ser