Canonical Allele Identifier: CA19282002

Gene: FUCA1

Linked Data

• dbSNP Id: rs551365853
• gnomAD v2: 1-24192380-G-A
• gnomAD v3: 1-23865890-G-A
• gnomAD v4: 1-23865890-G-A
• MyVariant Identifiers: chr1:g.24192380G>A (hg19) ; chr1:g.23865890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865890G>A , CM000663.2:g.23865890G>A	GRCh38
NC_000001.10:g.24192380G>A , CM000663.1:g.24192380G>A	GRCh37
NC_000001.9:g.24064967G>A	NCBI36
NG_013346.1:g.7480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-265C>T MANE Select	ENSP00000363603.3:n.390-265C>T
ENST00000374479.3:c.390-265C>T	ENSP00000363603.3:n.390-265C>T
NM_000147.4:c.390-265C>T	NP_000138.2:n.390-265C>T
XM_005245821.1:c.15-265C>T	XP_005245878.1:n.15-265C>T
XM_011541167.1:c.-245+20C>T	XP_011539469.1:n.-245+20C>T
XM_005245821.3:c.15-265C>T	XP_005245878.1:n.15-265C>T
XM_011541167.3:c.-245+20C>T	XP_011539469.1:n.-245+20C>T
XM_017000905.2:c.87-265C>T	XP_016856394.1:n.87-265C>T
NM_000147.5:c.390-265C>T MANE Select	NP_000138.2:n.390-265C>T
NR_174379.1:n.568-265C>T
NR_174380.1:n.617-265C>T
NR_174381.1:n.455+20C>T
NR_174382.1:n.852+20C>T