Canonical Allele Identifier: CA339008859

Gene: FUCA1

Linked Data

• dbSNP Id: rs1557516859
• gnomAD v4: 1-23867950-G-C
• MyVariant Identifiers: chr1:g.24194440G>C (hg19) ; chr1:g.23867950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23867950G>C , CM000663.2:g.23867950G>C	GRCh38
NC_000001.10:g.24194440G>C , CM000663.1:g.24194440G>C	GRCh37
NC_000001.9:g.24067027G>C	NCBI36
NG_013346.1:g.5420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.337C>G MANE Select	ENSP00000363603.3:p.Arg113Gly
ENST00000374479.3:c.337C>G	ENSP00000363603.3:p.Arg113Gly
NM_000147.4:c.337C>G	NP_000138.2:p.Arg113Gly
XM_005245821.1:c.-213C>G	XP_005245878.1:n.-213C>G
XM_005245821.3:c.-213C>G	XP_005245878.1:n.-213C>G
NM_000147.5:c.337C>G MANE Select	NP_000138.2:p.Arg113Gly
NR_174379.1:n.341C>G
NR_174380.1:n.341C>G
NR_174381.1:n.341C>G
NR_174382.1:n.341C>G