Canonical Allele Identifier: CA733369875

Gene: FUCA1

Linked Data

• dbSNP Id: rs1240933313
• gnomAD v3: 1-23865909-C-T
• gnomAD v4: 1-23865909-C-T
• MyVariant Identifiers: chr1:g.24192399C>T (hg19) ; chr1:g.23865909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865909C>T , CM000663.2:g.23865909C>T	GRCh38
NC_000001.10:g.24192399C>T , CM000663.1:g.24192399C>T	GRCh37
NC_000001.9:g.24064986C>T	NCBI36
NG_013346.1:g.7461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-284G>A MANE Select	ENSP00000363603.3:n.390-284G>A
ENST00000374479.3:c.390-284G>A	ENSP00000363603.3:n.390-284G>A
NM_000147.4:c.390-284G>A	NP_000138.2:n.390-284G>A
XM_005245821.1:c.15-284G>A	XP_005245878.1:n.15-284G>A
XM_011541167.1:c.-245+1G>A	XP_011539469.1:n.-245+1G>A
XM_005245821.3:c.15-284G>A	XP_005245878.1:n.15-284G>A
XM_011541167.3:c.-245+1G>A	XP_011539469.1:n.-245+1G>A
XM_017000905.2:c.87-284G>A	XP_016856394.1:n.87-284G>A
NM_000147.5:c.390-284G>A MANE Select	NP_000138.2:n.390-284G>A
NR_174379.1:n.568-284G>A
NR_174380.1:n.617-284G>A
NR_174381.1:n.455+1G>A
NR_174382.1:n.852+1G>A