Canonical Allele Identifier: CA416626856

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2745920
• ClinVar RCV Id: RCV003495050
• dbSNP Id: rs1232508413
• gnomAD v2: 1-24175267-A-G
• gnomAD v4: 1-23848777-A-G
• MyVariant Identifiers: chr1:g.24175267A>G (hg19) ; chr1:g.23848777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848777A>G , CM000663.2:g.23848777A>G	GRCh38
NC_000001.10:g.24175267A>G , CM000663.1:g.24175267A>G	GRCh37
NC_000001.9:g.24047854A>G	NCBI36
NG_013346.1:g.24593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1032T>C MANE Select	ENSP00000363603.3:p.Asp344=
ENST00000374479.3:c.1032T>C	ENSP00000363603.3:p.Asp344=
NM_000147.4:c.1032T>C	NP_000138.2:p.Asp344=
XM_005245821.1:c.657T>C	XP_005245878.1:p.Asp219=
XM_011541167.1:c.399T>C	XP_011539469.1:p.Asp133=
XM_005245821.3:c.657T>C	XP_005245878.1:p.Asp219=
XM_011541167.3:c.399T>C	XP_011539469.1:p.Asp133=
XM_017000905.2:c.729T>C	XP_016856394.1:p.Asp243=
NM_000147.5:c.1032T>C MANE Select	NP_000138.2:p.Asp344=
NR_174379.1:n.1210T>C
NR_174380.1:n.1259T>C
NR_174381.1:n.1098T>C
NR_174382.1:n.1495T>C