Canonical Allele Identifier: CA416626775

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2820130
• ClinVar RCV Id: RCV003599158
• MyVariant Identifiers: chr1:g.24175183G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848693G>A , CM000663.2:g.23848693G>A	GRCh38
NC_000001.10:g.24175183G>A , CM000663.1:g.24175183G>A	GRCh37
NC_000001.9:g.24047770G>A	NCBI36
NG_013346.1:g.24677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1116C>T MANE Select	ENSP00000363603.3:p.Ser372=
ENST00000374479.3:c.1116C>T	ENSP00000363603.3:p.Ser372=
NM_000147.4:c.1116C>T	NP_000138.2:p.Ser372=
XM_005245821.1:c.741C>T	XP_005245878.1:p.Ser247=
XM_011541167.1:c.483C>T	XP_011539469.1:p.Ser161=
XM_005245821.3:c.741C>T	XP_005245878.1:p.Ser247=
XM_011541167.3:c.483C>T	XP_011539469.1:p.Ser161=
XM_017000905.2:c.813C>T	XP_016856394.1:p.Ser271=
NM_000147.5:c.1116C>T MANE Select	NP_000138.2:p.Ser372=
NR_174379.1:n.1294C>T
NR_174380.1:n.1343C>T
NR_174381.1:n.1182C>T
NR_174382.1:n.1579C>T