Canonical Allele Identifier: CA339005175

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23859875C>G , CM000663.2:g.23859875C>G	GRCh38
NC_000001.10:g.24186365C>G , CM000663.1:g.24186365C>G	GRCh37
NC_000001.9:g.24058952C>G	NCBI36
NG_013346.1:g.13495G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.691G>C MANE Select	NP_000138.2:p.Gly231Arg
ENST00000374479.4:c.691G>C MANE Select	ENSP00000363603.3:p.Gly231Arg
NM_000147.4:c.691G>C	NP_000138.2:p.Gly231Arg
NR_174379.1:n.869G>C
NR_174380.1:n.918G>C
NR_174381.1:n.757G>C
NR_174382.1:n.1154G>C
ENST00000374479.3:c.691G>C	ENSP00000363603.3:p.Gly231Arg
XM_005245821.1:c.316G>C	XP_005245878.1:p.Gly106Arg
XM_005245821.3:c.316G>C	XP_005245878.1:p.Gly106Arg
XM_011541167.1:c.58G>C	XP_011539469.1:p.Gly20Arg
XM_011541167.3:c.58G>C	XP_011539469.1:p.Gly20Arg
XM_017000905.2:c.388G>C	XP_016856394.1:p.Gly130Arg