Canonical Allele Identifier: CA339036057

Gene: FUCA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1120C>T MANE Select	ENSP00000363603.3:p.Pro374Ser
ENST00000374479.3:c.1120C>T	ENSP00000363603.3:p.Pro374Ser
NM_000147.4:c.1120C>T	NP_000138.2:p.Pro374Ser
XM_005245821.1:c.745C>T	XP_005245878.1:p.Pro249Ser
XM_011541167.1:c.487C>T	XP_011539469.1:p.Pro163Ser
XM_005245821.3:c.745C>T	XP_005245878.1:p.Pro249Ser
XM_011541167.3:c.487C>T	XP_011539469.1:p.Pro163Ser
XM_017000905.2:c.817C>T	XP_016856394.1:p.Pro273Ser
NM_000147.5:c.1120C>T MANE Select	NP_000138.2:p.Pro374Ser
NR_174379.1:n.1298C>T
NR_174380.1:n.1347C>T
NR_174381.1:n.1186C>T
NR_174382.1:n.1583C>T