Canonical Allele Identifier: CA339035956

Gene: FUCA1

Linked Data

• dbSNP Id: rs1165623762
• gnomAD v2: 1-24175164-A-G
• gnomAD v4: 1-23848674-A-G
• MyVariant Identifiers: chr1:g.24175164A>G (hg19) ; chr1:g.23848674A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848674A>G , CM000663.2:g.23848674A>G	GRCh38
NC_000001.10:g.24175164A>G , CM000663.1:g.24175164A>G	GRCh37
NC_000001.9:g.24047751A>G	NCBI36
NG_013346.1:g.24696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1135T>C MANE Select	ENSP00000363603.3:p.Trp379Arg
ENST00000374479.3:c.1135T>C	ENSP00000363603.3:p.Trp379Arg
NM_000147.4:c.1135T>C	NP_000138.2:p.Trp379Arg
XM_005245821.1:c.760T>C	XP_005245878.1:p.Trp254Arg
XM_011541167.1:c.502T>C	XP_011539469.1:p.Trp168Arg
XM_005245821.3:c.760T>C	XP_005245878.1:p.Trp254Arg
XM_011541167.3:c.502T>C	XP_011539469.1:p.Trp168Arg
XM_017000905.2:c.832T>C	XP_016856394.1:p.Trp278Arg
NM_000147.5:c.1135T>C MANE Select	NP_000138.2:p.Trp379Arg
NR_174379.1:n.1313T>C
NR_174380.1:n.1362T>C
NR_174381.1:n.1201T>C
NR_174382.1:n.1598T>C