Canonical Allele Identifier: CA339036735

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175311T>G (hg19) ; chr1:g.23848821T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848821T>G , CM000663.2:g.23848821T>G	GRCh38
NC_000001.10:g.24175311T>G , CM000663.1:g.24175311T>G	GRCh37
NC_000001.9:g.24047898T>G	NCBI36
NG_013346.1:g.24549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.988A>C MANE Select	ENSP00000363603.3:p.Ser330Arg
ENST00000374479.3:c.988A>C	ENSP00000363603.3:p.Ser330Arg
NM_000147.4:c.988A>C	NP_000138.2:p.Ser330Arg
XM_005245821.1:c.613A>C	XP_005245878.1:p.Ser205Arg
XM_011541167.1:c.355A>C	XP_011539469.1:p.Ser119Arg
XM_005245821.3:c.613A>C	XP_005245878.1:p.Ser205Arg
XM_011541167.3:c.355A>C	XP_011539469.1:p.Ser119Arg
XM_017000905.2:c.685A>C	XP_016856394.1:p.Ser229Arg
NM_000147.5:c.988A>C MANE Select	NP_000138.2:p.Ser330Arg
NR_174379.1:n.1166A>C
NR_174380.1:n.1215A>C
NR_174381.1:n.1054A>C
NR_174382.1:n.1451A>C