Canonical Allele Identifier: CA339036721

Gene: FUCA1

Linked Data

• dbSNP Id: rs1379908534
• gnomAD v3: 1-23848815-C-G
• gnomAD v4: 1-23848815-C-G
• MyVariant Identifiers: chr1:g.24175305C>G (hg19) ; chr1:g.23848815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848815C>G , CM000663.2:g.23848815C>G	GRCh38
NC_000001.10:g.24175305C>G , CM000663.1:g.24175305C>G	GRCh37
NC_000001.9:g.24047892C>G	NCBI36
NG_013346.1:g.24555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.994G>C MANE Select	ENSP00000363603.3:p.Gly332Arg
ENST00000374479.3:c.994G>C	ENSP00000363603.3:p.Gly332Arg
NM_000147.4:c.994G>C	NP_000138.2:p.Gly332Arg
XM_005245821.1:c.619G>C	XP_005245878.1:p.Gly207Arg
XM_011541167.1:c.361G>C	XP_011539469.1:p.Gly121Arg
XM_005245821.3:c.619G>C	XP_005245878.1:p.Gly207Arg
XM_011541167.3:c.361G>C	XP_011539469.1:p.Gly121Arg
XM_017000905.2:c.691G>C	XP_016856394.1:p.Gly231Arg
NM_000147.5:c.994G>C MANE Select	NP_000138.2:p.Gly332Arg
NR_174379.1:n.1172G>C
NR_174380.1:n.1221G>C
NR_174381.1:n.1060G>C
NR_174382.1:n.1457G>C