Canonical Allele Identifier: CA339007372

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192006C>G (hg19) ; chr1:g.23865516C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865516C>G , CM000663.2:g.23865516C>G	GRCh38
NC_000001.10:g.24192006C>G , CM000663.1:g.24192006C>G	GRCh37
NC_000001.9:g.24064593C>G	NCBI36
NG_013346.1:g.7854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.499G>C MANE Select	ENSP00000363603.3:p.Glu167Gln
ENST00000374479.3:c.499G>C	ENSP00000363603.3:p.Glu167Gln
NM_000147.4:c.499G>C	NP_000138.2:p.Glu167Gln
XM_005245821.1:c.124G>C	XP_005245878.1:p.Glu42Gln
XM_011541167.1:c.-135G>C	XP_011539469.1:n.-135G>C
XM_005245821.3:c.124G>C	XP_005245878.1:p.Glu42Gln
XM_011541167.3:c.-135G>C	XP_011539469.1:n.-135G>C
XM_017000905.2:c.196G>C	XP_016856394.1:p.Glu66Gln
NM_000147.5:c.499G>C MANE Select	NP_000138.2:p.Glu167Gln
NR_174379.1:n.677G>C
NR_174380.1:n.726G>C
NR_174381.1:n.565G>C
NR_174382.1:n.962G>C