Canonical Allele Identifier: CA339007733

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639607449
• MyVariant Identifiers: chr1:g.24192095T>C (hg19) ; chr1:g.23865605T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865605T>C , CM000663.2:g.23865605T>C	GRCh38
NC_000001.10:g.24192095T>C , CM000663.1:g.24192095T>C	GRCh37
NC_000001.9:g.24064682T>C	NCBI36
NG_013346.1:g.7765A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.410A>G MANE Select	ENSP00000363603.3:p.Lys137Arg
ENST00000374479.3:c.410A>G	ENSP00000363603.3:p.Lys137Arg
NM_000147.4:c.410A>G	NP_000138.2:p.Lys137Arg
XM_005245821.1:c.35A>G	XP_005245878.1:p.Lys12Arg
XM_011541167.1:c.-224A>G	XP_011539469.1:n.-224A>G
XM_005245821.3:c.35A>G	XP_005245878.1:p.Lys12Arg
XM_011541167.3:c.-224A>G	XP_011539469.1:n.-224A>G
XM_017000905.2:c.107A>G	XP_016856394.1:p.Lys36Arg
NM_000147.5:c.410A>G MANE Select	NP_000138.2:p.Lys137Arg
NR_174379.1:n.588A>G
NR_174380.1:n.637A>G
NR_174381.1:n.476A>G
NR_174382.1:n.873A>G