Canonical Allele Identifier: CA686358

Gene: FUCA1

Linked Data

• dbSNP Id: rs754405055
• ExAC: 1:24175178 G / C
• gnomAD v2: 1-24175178-G-C
• gnomAD v4: 1-23848688-G-C
• MyVariant Identifiers: chr1:g.24175178G>C (hg19) ; chr1:g.23848688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848688G>C , CM000663.2:g.23848688G>C	GRCh38
NC_000001.10:g.24175178G>C , CM000663.1:g.24175178G>C	GRCh37
NC_000001.9:g.24047765G>C	NCBI36
NG_013346.1:g.24682C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1121C>G MANE Select	ENSP00000363603.3:p.Pro374Arg
ENST00000374479.3:c.1121C>G	ENSP00000363603.3:p.Pro374Arg
NM_000147.4:c.1121C>G	NP_000138.2:p.Pro374Arg
XM_005245821.1:c.746C>G	XP_005245878.1:p.Pro249Arg
XM_011541167.1:c.488C>G	XP_011539469.1:p.Pro163Arg
XM_005245821.3:c.746C>G	XP_005245878.1:p.Pro249Arg
XM_011541167.3:c.488C>G	XP_011539469.1:p.Pro163Arg
XM_017000905.2:c.818C>G	XP_016856394.1:p.Pro273Arg
NM_000147.5:c.1121C>G MANE Select	NP_000138.2:p.Pro374Arg
NR_174379.1:n.1299C>G
NR_174380.1:n.1348C>G
NR_174381.1:n.1187C>G
NR_174382.1:n.1584C>G