Canonical Allele Identifier: CA416626867

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1579899
• ClinVar RCV Id: RCV002093471
• dbSNP Id: rs2148438798
• gnomAD v4: 1-23848795-G-A
• MyVariant Identifiers: chr1:g.24175285G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848795G>A , CM000663.2:g.23848795G>A	GRCh38
NC_000001.10:g.24175285G>A , CM000663.1:g.24175285G>A	GRCh37
NC_000001.9:g.24047872G>A	NCBI36
NG_013346.1:g.24575C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1014C>T MANE Select	ENSP00000363603.3:p.Asn338=
ENST00000374479.3:c.1014C>T	ENSP00000363603.3:p.Asn338=
NM_000147.4:c.1014C>T	NP_000138.2:p.Asn338=
XM_005245821.1:c.639C>T	XP_005245878.1:p.Asn213=
XM_011541167.1:c.381C>T	XP_011539469.1:p.Asn127=
XM_005245821.3:c.639C>T	XP_005245878.1:p.Asn213=
XM_011541167.3:c.381C>T	XP_011539469.1:p.Asn127=
XM_017000905.2:c.711C>T	XP_016856394.1:p.Asn237=
NM_000147.5:c.1014C>T MANE Select	NP_000138.2:p.Asn338=
NR_174379.1:n.1192C>T
NR_174380.1:n.1241C>T
NR_174381.1:n.1080C>T
NR_174382.1:n.1477C>T