Canonical Allele Identifier: CA686544

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 296890
• ClinVar RCV Id: RCV000313109 ; RCV000993946 ; RCV001251773 ; RCV003977840
• dbSNP Id: rs150062050
• ExAC: 1:24192072 A / G
• gnomAD v2: 1-24192072-A-G
• gnomAD v3: 1-23865582-A-G
• gnomAD v4: 1-23865582-A-G
• MyVariant Identifiers: chr1:g.24192072A>G (hg19) ; chr1:g.23865582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865582A>G , CM000663.2:g.23865582A>G	GRCh38
NC_000001.10:g.24192072A>G , CM000663.1:g.24192072A>G	GRCh37
NC_000001.9:g.24064659A>G	NCBI36
NG_013346.1:g.7788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.433T>C MANE Select	ENSP00000363603.3:p.Trp145Arg
ENST00000374479.3:c.433T>C	ENSP00000363603.3:p.Trp145Arg
NM_000147.4:c.433T>C	NP_000138.2:p.Trp145Arg
XM_005245821.1:c.58T>C	XP_005245878.1:p.Trp20Arg
XM_011541167.1:c.-201T>C	XP_011539469.1:n.-201T>C
XM_005245821.3:c.58T>C	XP_005245878.1:p.Trp20Arg
XM_011541167.3:c.-201T>C	XP_011539469.1:n.-201T>C
XM_017000905.2:c.130T>C	XP_016856394.1:p.Trp44Arg
NM_000147.5:c.433T>C MANE Select	NP_000138.2:p.Trp145Arg
NR_174379.1:n.611T>C
NR_174380.1:n.660T>C
NR_174381.1:n.499T>C
NR_174382.1:n.896T>C