Canonical Allele Identifier: CA339036620

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175257C>G (hg19) ; chr1:g.23848767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848767C>G , CM000663.2:g.23848767C>G	GRCh38
NC_000001.10:g.24175257C>G , CM000663.1:g.24175257C>G	GRCh37
NC_000001.9:g.24047844C>G	NCBI36
NG_013346.1:g.24603G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1042G>C MANE Select	ENSP00000363603.3:p.Val348Leu
ENST00000374479.3:c.1042G>C	ENSP00000363603.3:p.Val348Leu
NM_000147.4:c.1042G>C	NP_000138.2:p.Val348Leu
XM_005245821.1:c.667G>C	XP_005245878.1:p.Val223Leu
XM_011541167.1:c.409G>C	XP_011539469.1:p.Val137Leu
XM_005245821.3:c.667G>C	XP_005245878.1:p.Val223Leu
XM_011541167.3:c.409G>C	XP_011539469.1:p.Val137Leu
XM_017000905.2:c.739G>C	XP_016856394.1:p.Val247Leu
NM_000147.5:c.1042G>C MANE Select	NP_000138.2:p.Val348Leu
NR_174379.1:n.1220G>C
NR_174380.1:n.1269G>C
NR_174381.1:n.1108G>C
NR_174382.1:n.1505G>C