Canonical Allele Identifier: CA19281528

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 3063871
• ClinVar RCV Id: RCV003988459
• dbSNP Id: rs544803192
• gnomAD v2: 1-24191976-C-T
• gnomAD v3: 1-23865486-C-T
• gnomAD v4: 1-23865486-C-T
• MyVariant Identifiers: chr1:g.24191976C>T (hg19) ; chr1:g.23865486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865486C>T , CM000663.2:g.23865486C>T	GRCh38
NC_000001.10:g.24191976C>T , CM000663.1:g.24191976C>T	GRCh37
NC_000001.9:g.24064563C>T	NCBI36
NG_013346.1:g.7884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.524+5G>A MANE Select	ENSP00000363603.3:n.524+5G>A
ENST00000374479.3:c.524+5G>A	ENSP00000363603.3:n.524+5G>A
NM_000147.4:c.524+5G>A	NP_000138.2:n.524+5G>A
XM_005245821.1:c.149+5G>A	XP_005245878.1:n.149+5G>A
XM_011541167.1:c.-110+5G>A	XP_011539469.1:n.-110+5G>A
XM_005245821.3:c.149+5G>A	XP_005245878.1:n.149+5G>A
XM_011541167.3:c.-110+5G>A	XP_011539469.1:n.-110+5G>A
XM_017000905.2:c.221+5G>A	XP_016856394.1:n.221+5G>A
NM_000147.5:c.524+5G>A MANE Select	NP_000138.2:n.524+5G>A
NR_174379.1:n.702+5G>A
NR_174380.1:n.751+5G>A
NR_174381.1:n.590+5G>A
NR_174382.1:n.987+5G>A