Canonical Allele Identifier: CA19281860

Gene: FUCA1

Linked Data

• dbSNP Id: rs1019402226
• gnomAD v3: 1-23865749-G-T
• gnomAD v4: 1-23865749-G-T
• MyVariant Identifiers: chr1:g.24192239G>T (hg19) ; chr1:g.23865749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865749G>T , CM000663.2:g.23865749G>T	GRCh38
NC_000001.10:g.24192239G>T , CM000663.1:g.24192239G>T	GRCh37
NC_000001.9:g.24064826G>T	NCBI36
NG_013346.1:g.7621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-124C>A MANE Select	ENSP00000363603.3:n.390-124C>A
ENST00000374479.3:c.390-124C>A	ENSP00000363603.3:n.390-124C>A
NM_000147.4:c.390-124C>A	NP_000138.2:n.390-124C>A
XM_005245821.1:c.15-124C>A	XP_005245878.1:n.15-124C>A
XM_011541167.1:c.-244-124C>A	XP_011539469.1:n.-244-124C>A
XM_005245821.3:c.15-124C>A	XP_005245878.1:n.15-124C>A
XM_011541167.3:c.-244-124C>A	XP_011539469.1:n.-244-124C>A
XM_017000905.2:c.87-124C>A	XP_016856394.1:n.87-124C>A
NM_000147.5:c.390-124C>A MANE Select	NP_000138.2:n.390-124C>A
NR_174379.1:n.568-124C>A
NR_174380.1:n.617-124C>A
NR_174381.1:n.456-124C>A
NR_174382.1:n.853-124C>A