Canonical Allele Identifier: CA521651711

Gene: FUCA1

Linked Data

• dbSNP Id: rs1333988550
• gnomAD v2: 1-24192289-G-A
• gnomAD v3: 1-23865799-G-A
• gnomAD v4: 1-23865799-G-A
• MyVariant Identifiers: chr1:g.24192289G>A (hg19) ; chr1:g.23865799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865799G>A , CM000663.2:g.23865799G>A	GRCh38
NC_000001.10:g.24192289G>A , CM000663.1:g.24192289G>A	GRCh37
NC_000001.9:g.24064876G>A	NCBI36
NG_013346.1:g.7571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-174C>T MANE Select	ENSP00000363603.3:n.390-174C>T
ENST00000374479.3:c.390-174C>T	ENSP00000363603.3:n.390-174C>T
NM_000147.4:c.390-174C>T	NP_000138.2:n.390-174C>T
XM_005245821.1:c.15-174C>T	XP_005245878.1:n.15-174C>T
XM_011541167.1:c.-245+111C>T	XP_011539469.1:n.-245+111C>T
XM_005245821.3:c.15-174C>T	XP_005245878.1:n.15-174C>T
XM_011541167.3:c.-245+111C>T	XP_011539469.1:n.-245+111C>T
XM_017000905.2:c.87-174C>T	XP_016856394.1:n.87-174C>T
NM_000147.5:c.390-174C>T MANE Select	NP_000138.2:n.390-174C>T
NR_174379.1:n.568-174C>T
NR_174380.1:n.617-174C>T
NR_174381.1:n.455+111C>T
NR_174382.1:n.852+111C>T