Canonical Allele Identifier: CA686547

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2045928
• ClinVar RCV Id: RCV002909006
• dbSNP Id: rs753232669
• ExAC: 1:24192083 C / G
• gnomAD v2: 1-24192083-C-G
• gnomAD v3: 1-23865593-C-G
• gnomAD v4: 1-23865593-C-G
• MyVariant Identifiers: chr1:g.24192083C>G (hg19) ; chr1:g.23865593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865593C>G , CM000663.2:g.23865593C>G	GRCh38
NC_000001.10:g.24192083C>G , CM000663.1:g.24192083C>G	GRCh37
NC_000001.9:g.24064670C>G	NCBI36
NG_013346.1:g.7777G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.422G>C MANE Select	ENSP00000363603.3:p.Gly141Ala
ENST00000374479.3:c.422G>C	ENSP00000363603.3:p.Gly141Ala
NM_000147.4:c.422G>C	NP_000138.2:p.Gly141Ala
XM_005245821.1:c.47G>C	XP_005245878.1:p.Gly16Ala
XM_011541167.1:c.-212G>C	XP_011539469.1:n.-212G>C
XM_005245821.3:c.47G>C	XP_005245878.1:p.Gly16Ala
XM_011541167.3:c.-212G>C	XP_011539469.1:n.-212G>C
XM_017000905.2:c.119G>C	XP_016856394.1:p.Gly40Ala
NM_000147.5:c.422G>C MANE Select	NP_000138.2:p.Gly141Ala
NR_174379.1:n.600G>C
NR_174380.1:n.649G>C
NR_174381.1:n.488G>C
NR_174382.1:n.885G>C