Canonical Allele Identifier: CA2644085303

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865777-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865777T>C , CM000663.2:g.23865777T>C	GRCh38
NC_000001.10:g.24192267T>C , CM000663.1:g.24192267T>C	GRCh37
NC_000001.9:g.24064854T>C	NCBI36
NG_013346.1:g.7593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-152A>G MANE Select	ENSP00000363603.3:n.390-152A>G
ENST00000374479.3:c.390-152A>G	ENSP00000363603.3:n.390-152A>G
NM_000147.4:c.390-152A>G	NP_000138.2:n.390-152A>G
XM_005245821.1:c.15-152A>G	XP_005245878.1:n.15-152A>G
XM_011541167.1:c.-245+133A>G	XP_011539469.1:n.-245+133A>G
XM_005245821.3:c.15-152A>G	XP_005245878.1:n.15-152A>G
XM_011541167.3:c.-245+133A>G	XP_011539469.1:n.-245+133A>G
XM_017000905.2:c.87-152A>G	XP_016856394.1:n.87-152A>G
NM_000147.5:c.390-152A>G MANE Select	NP_000138.2:n.390-152A>G
NR_174379.1:n.568-152A>G
NR_174380.1:n.617-152A>G
NR_174381.1:n.455+133A>G
NR_174382.1:n.852+133A>G