Canonical Allele Identifier: CA339034123

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23845830T>C , CM000663.2:g.23845830T>C	GRCh38
NC_000001.10:g.24172320T>C , CM000663.1:g.24172320T>C	GRCh37
NC_000001.9:g.24044907T>C	NCBI36
NG_013346.1:g.27540A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1286A>G MANE Select	NP_000138.2:p.Asp429Gly
ENST00000374479.4:c.1286A>G MANE Select	ENSP00000363603.3:p.Asp429Gly
NM_000147.4:c.1286A>G	NP_000138.2:p.Asp429Gly
NR_174379.1:n.1464A>G
NR_174380.1:n.1513A>G
NR_174381.1:n.1352A>G
NR_174382.1:n.1749A>G
ENST00000374479.3:c.1286A>G	ENSP00000363603.3:p.Asp429Gly
XM_005245821.1:c.911A>G	XP_005245878.1:p.Asp304Gly
XM_005245821.3:c.911A>G	XP_005245878.1:p.Asp304Gly
XM_011541167.1:c.653A>G	XP_011539469.1:p.Asp218Gly
XM_011541167.3:c.653A>G	XP_011539469.1:p.Asp218Gly
XM_017000905.2:c.983A>G	XP_016856394.1:p.Asp328Gly