Canonical Allele Identifier: CA686528

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1415412
• ClinVar RCV Id: RCV001933070 ; RCV003481185
• dbSNP Id: rs768069468
• ExAC: 1:24191988 G / A
• gnomAD v2: 1-24191988-G-A
• gnomAD v3: 1-23865498-G-A
• gnomAD v4: 1-23865498-G-A
• MyVariant Identifiers: chr1:g.24191988G>A (hg19) ; chr1:g.23865498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865498G>A , CM000663.2:g.23865498G>A	GRCh38
NC_000001.10:g.24191988G>A , CM000663.1:g.24191988G>A	GRCh37
NC_000001.9:g.24064575G>A	NCBI36
NG_013346.1:g.7872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.517C>T MANE Select	ENSP00000363603.3:p.Arg173Trp
ENST00000374479.3:c.517C>T	ENSP00000363603.3:p.Arg173Trp
NM_000147.4:c.517C>T	NP_000138.2:p.Arg173Trp
XM_005245821.1:c.142C>T	XP_005245878.1:p.Arg48Trp
XM_011541167.1:c.-117C>T	XP_011539469.1:n.-117C>T
XM_005245821.3:c.142C>T	XP_005245878.1:p.Arg48Trp
XM_011541167.3:c.-117C>T	XP_011539469.1:n.-117C>T
XM_017000905.2:c.214C>T	XP_016856394.1:p.Arg72Trp
NM_000147.5:c.517C>T MANE Select	NP_000138.2:p.Arg173Trp
NR_174379.1:n.695C>T
NR_174380.1:n.744C>T
NR_174381.1:n.583C>T
NR_174382.1:n.980C>T