Canonical Allele Identifier: CA521651715

Gene: FUCA1

Linked Data

• dbSNP Id: rs947778663
• gnomAD v2: 1-24192346-C-A
• gnomAD v3: 1-23865856-C-A
• gnomAD v4: 1-23865856-C-A
• MyVariant Identifiers: chr1:g.24192346C>A (hg19) ; chr1:g.23865856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865856C>A , CM000663.2:g.23865856C>A	GRCh38
NC_000001.10:g.24192346C>A , CM000663.1:g.24192346C>A	GRCh37
NC_000001.9:g.24064933C>A	NCBI36
NG_013346.1:g.7514G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-231G>T MANE Select	ENSP00000363603.3:n.390-231G>T
ENST00000374479.3:c.390-231G>T	ENSP00000363603.3:n.390-231G>T
NM_000147.4:c.390-231G>T	NP_000138.2:n.390-231G>T
XM_005245821.1:c.15-231G>T	XP_005245878.1:n.15-231G>T
XM_011541167.1:c.-245+54G>T	XP_011539469.1:n.-245+54G>T
XM_005245821.3:c.15-231G>T	XP_005245878.1:n.15-231G>T
XM_011541167.3:c.-245+54G>T	XP_011539469.1:n.-245+54G>T
XM_017000905.2:c.87-231G>T	XP_016856394.1:n.87-231G>T
NM_000147.5:c.390-231G>T MANE Select	NP_000138.2:n.390-231G>T
NR_174379.1:n.568-231G>T
NR_174380.1:n.617-231G>T
NR_174381.1:n.455+54G>T
NR_174382.1:n.852+54G>T