Canonical Allele Identifier: CA339007371

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192005T>G (hg19) ; chr1:g.23865515T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865515T>G , CM000663.2:g.23865515T>G	GRCh38
NC_000001.10:g.24192005T>G , CM000663.1:g.24192005T>G	GRCh37
NC_000001.9:g.24064592T>G	NCBI36
NG_013346.1:g.7855A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.500A>C MANE Select	ENSP00000363603.3:p.Glu167Ala
ENST00000374479.3:c.500A>C	ENSP00000363603.3:p.Glu167Ala
NM_000147.4:c.500A>C	NP_000138.2:p.Glu167Ala
XM_005245821.1:c.125A>C	XP_005245878.1:p.Glu42Ala
XM_011541167.1:c.-134A>C	XP_011539469.1:n.-134A>C
XM_005245821.3:c.125A>C	XP_005245878.1:p.Glu42Ala
XM_011541167.3:c.-134A>C	XP_011539469.1:n.-134A>C
XM_017000905.2:c.197A>C	XP_016856394.1:p.Glu66Ala
NM_000147.5:c.500A>C MANE Select	NP_000138.2:p.Glu167Ala
NR_174379.1:n.678A>C
NR_174380.1:n.727A>C
NR_174381.1:n.566A>C
NR_174382.1:n.963A>C