Canonical Allele Identifier: CA339036385

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175218A>G (hg19) ; chr1:g.23848728A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848728A>G , CM000663.2:g.23848728A>G	GRCh38
NC_000001.10:g.24175218A>G , CM000663.1:g.24175218A>G	GRCh37
NC_000001.9:g.24047805A>G	NCBI36
NG_013346.1:g.24642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1081T>C MANE Select	ENSP00000363603.3:p.Trp361Arg
ENST00000374479.3:c.1081T>C	ENSP00000363603.3:p.Trp361Arg
NM_000147.4:c.1081T>C	NP_000138.2:p.Trp361Arg
XM_005245821.1:c.706T>C	XP_005245878.1:p.Trp236Arg
XM_011541167.1:c.448T>C	XP_011539469.1:p.Trp150Arg
XM_005245821.3:c.706T>C	XP_005245878.1:p.Trp236Arg
XM_011541167.3:c.448T>C	XP_011539469.1:p.Trp150Arg
XM_017000905.2:c.778T>C	XP_016856394.1:p.Trp260Arg
NM_000147.5:c.1081T>C MANE Select	NP_000138.2:p.Trp361Arg
NR_174379.1:n.1259T>C
NR_174380.1:n.1308T>C
NR_174381.1:n.1147T>C
NR_174382.1:n.1544T>C