Canonical Allele Identifier: CA686336

Gene: FUCA1

Linked Data

• dbSNP Id: rs765887901
• ExAC: 1:24175088 T / A
• gnomAD v2: 1-24175088-T-A
• gnomAD v3: 1-23848598-T-A
• gnomAD v4: 1-23848598-T-A
• MyVariant Identifiers: chr1:g.24175088T>A (hg19) ; chr1:g.23848598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848598T>A , CM000663.2:g.23848598T>A	GRCh38
NC_000001.10:g.24175088T>A , CM000663.1:g.24175088T>A	GRCh37
NC_000001.9:g.24047675T>A	NCBI36
NG_013346.1:g.24772A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1160+51A>T MANE Select	ENSP00000363603.3:n.1160+51A>T
ENST00000374479.3:c.1160+51A>T	ENSP00000363603.3:n.1160+51A>T
NM_000147.4:c.1160+51A>T	NP_000138.2:n.1160+51A>T
XM_005245821.1:c.785+51A>T	XP_005245878.1:n.785+51A>T
XM_011541167.1:c.527+51A>T	XP_011539469.1:n.527+51A>T
XM_005245821.3:c.785+51A>T	XP_005245878.1:n.785+51A>T
XM_011541167.3:c.527+51A>T	XP_011539469.1:n.527+51A>T
XM_017000905.2:c.857+51A>T	XP_016856394.1:n.857+51A>T
NM_000147.5:c.1160+51A>T MANE Select	NP_000138.2:n.1160+51A>T
NR_174379.1:n.1338+51A>T
NR_174380.1:n.1387+51A>T
NR_174381.1:n.1226+51A>T
NR_174382.1:n.1623+51A>T