Canonical Allele Identifier: CA339036060

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175179G>C (hg19) ; chr1:g.23848689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848689G>C , CM000663.2:g.23848689G>C	GRCh38
NC_000001.10:g.24175179G>C , CM000663.1:g.24175179G>C	GRCh37
NC_000001.9:g.24047766G>C	NCBI36
NG_013346.1:g.24681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1120C>G MANE Select	ENSP00000363603.3:p.Pro374Ala
ENST00000374479.3:c.1120C>G	ENSP00000363603.3:p.Pro374Ala
NM_000147.4:c.1120C>G	NP_000138.2:p.Pro374Ala
XM_005245821.1:c.745C>G	XP_005245878.1:p.Pro249Ala
XM_011541167.1:c.487C>G	XP_011539469.1:p.Pro163Ala
XM_005245821.3:c.745C>G	XP_005245878.1:p.Pro249Ala
XM_011541167.3:c.487C>G	XP_011539469.1:p.Pro163Ala
XM_017000905.2:c.817C>G	XP_016856394.1:p.Pro273Ala
NM_000147.5:c.1120C>G MANE Select	NP_000138.2:p.Pro374Ala
NR_174379.1:n.1298C>G
NR_174380.1:n.1347C>G
NR_174381.1:n.1186C>G
NR_174382.1:n.1583C>G