Canonical Allele Identifier: CA19283380

Gene: FUCA1

Linked Data

• dbSNP Id: rs993220473
• gnomAD v3: 1-23868030-C-T
• gnomAD v4: 1-23868030-C-T
• MyVariant Identifiers: chr1:g.24194520C>T (hg19) ; chr1:g.23868030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868030C>T , CM000663.2:g.23868030C>T	GRCh38
NC_000001.10:g.24194520C>T , CM000663.1:g.24194520C>T	GRCh37
NC_000001.9:g.24067107C>T	NCBI36
NG_013346.1:g.5340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.257G>A MANE Select	ENSP00000363603.3:p.Arg86Gln
ENST00000374479.3:c.257G>A	ENSP00000363603.3:p.Arg86Gln
NM_000147.4:c.257G>A	NP_000138.2:p.Arg86Gln
XM_005245821.1:c.-293G>A	XP_005245878.1:n.-293G>A
XM_005245821.3:c.-293G>A	XP_005245878.1:n.-293G>A
NM_000147.5:c.257G>A MANE Select	NP_000138.2:p.Arg86Gln
NR_174379.1:n.261G>A
NR_174380.1:n.261G>A
NR_174381.1:n.261G>A
NR_174382.1:n.261G>A