Canonical Allele Identifier: CA733369793

Gene: FUCA1

Linked Data

• dbSNP Id: rs1391679642
• gnomAD v3: 1-23865743-G-C
• gnomAD v4: 1-23865743-G-C
• MyVariant Identifiers: chr1:g.24192233G>C (hg19) ; chr1:g.23865743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865743G>C , CM000663.2:g.23865743G>C	GRCh38
NC_000001.10:g.24192233G>C , CM000663.1:g.24192233G>C	GRCh37
NC_000001.9:g.24064820G>C	NCBI36
NG_013346.1:g.7627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-118C>G MANE Select	ENSP00000363603.3:n.390-118C>G
ENST00000374479.3:c.390-118C>G	ENSP00000363603.3:n.390-118C>G
NM_000147.4:c.390-118C>G	NP_000138.2:n.390-118C>G
XM_005245821.1:c.15-118C>G	XP_005245878.1:n.15-118C>G
XM_011541167.1:c.-244-118C>G	XP_011539469.1:n.-244-118C>G
XM_005245821.3:c.15-118C>G	XP_005245878.1:n.15-118C>G
XM_011541167.3:c.-244-118C>G	XP_011539469.1:n.-244-118C>G
XM_017000905.2:c.87-118C>G	XP_016856394.1:n.87-118C>G
NM_000147.5:c.390-118C>G MANE Select	NP_000138.2:n.390-118C>G
NR_174379.1:n.568-118C>G
NR_174380.1:n.617-118C>G
NR_174381.1:n.456-118C>G
NR_174382.1:n.853-118C>G