Canonical Allele Identifier: CA686378

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2733865
• ClinVar RCV Id: RCV003494623
• dbSNP Id: rs776913133
• ExAC: 1:24175299 T / A
• gnomAD v2: 1-24175299-T-A
• gnomAD v3: 1-23848809-T-A
• gnomAD v4: 1-23848809-T-A
• MyVariant Identifiers: chr1:g.24175299T>A (hg19) ; chr1:g.23848809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848809T>A , CM000663.2:g.23848809T>A	GRCh38
NC_000001.10:g.24175299T>A , CM000663.1:g.24175299T>A	GRCh37
NC_000001.9:g.24047886T>A	NCBI36
NG_013346.1:g.24561A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1000A>T MANE Select	ENSP00000363603.3:p.Asn334Tyr
ENST00000374479.3:c.1000A>T	ENSP00000363603.3:p.Asn334Tyr
NM_000147.4:c.1000A>T	NP_000138.2:p.Asn334Tyr
XM_005245821.1:c.625A>T	XP_005245878.1:p.Asn209Tyr
XM_011541167.1:c.367A>T	XP_011539469.1:p.Asn123Tyr
XM_005245821.3:c.625A>T	XP_005245878.1:p.Asn209Tyr
XM_011541167.3:c.367A>T	XP_011539469.1:p.Asn123Tyr
XM_017000905.2:c.697A>T	XP_016856394.1:p.Asn233Tyr
NM_000147.5:c.1000A>T MANE Select	NP_000138.2:p.Asn334Tyr
NR_174379.1:n.1178A>T
NR_174380.1:n.1227A>T
NR_174381.1:n.1066A>T
NR_174382.1:n.1463A>T