Canonical Allele Identifier: CA19281978

Gene: FUCA1

Linked Data

• dbSNP Id: rs1046221050
• gnomAD v2: 1-24192357-G-T
• gnomAD v3: 1-23865867-G-T
• gnomAD v4: 1-23865867-G-T
• MyVariant Identifiers: chr1:g.24192357G>T (hg19) ; chr1:g.23865867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865867G>T , CM000663.2:g.23865867G>T	GRCh38
NC_000001.10:g.24192357G>T , CM000663.1:g.24192357G>T	GRCh37
NC_000001.9:g.24064944G>T	NCBI36
NG_013346.1:g.7503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-242C>A MANE Select	ENSP00000363603.3:n.390-242C>A
ENST00000374479.3:c.390-242C>A	ENSP00000363603.3:n.390-242C>A
NM_000147.4:c.390-242C>A	NP_000138.2:n.390-242C>A
XM_005245821.1:c.15-242C>A	XP_005245878.1:n.15-242C>A
XM_011541167.1:c.-245+43C>A	XP_011539469.1:n.-245+43C>A
XM_005245821.3:c.15-242C>A	XP_005245878.1:n.15-242C>A
XM_011541167.3:c.-245+43C>A	XP_011539469.1:n.-245+43C>A
XM_017000905.2:c.87-242C>A	XP_016856394.1:n.87-242C>A
NM_000147.5:c.390-242C>A MANE Select	NP_000138.2:n.390-242C>A
NR_174379.1:n.568-242C>A
NR_174380.1:n.617-242C>A
NR_174381.1:n.455+43C>A
NR_174382.1:n.852+43C>A