Canonical Allele Identifier: CA339036600

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848763-G-C
• MyVariant Identifiers: chr1:g.24175253G>C (hg19) ; chr1:g.23848763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848763G>C , CM000663.2:g.23848763G>C	GRCh38
NC_000001.10:g.24175253G>C , CM000663.1:g.24175253G>C	GRCh37
NC_000001.9:g.24047840G>C	NCBI36
NG_013346.1:g.24607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1046C>G MANE Select	ENSP00000363603.3:p.Pro349Arg
ENST00000374479.3:c.1046C>G	ENSP00000363603.3:p.Pro349Arg
NM_000147.4:c.1046C>G	NP_000138.2:p.Pro349Arg
XM_005245821.1:c.671C>G	XP_005245878.1:p.Pro224Arg
XM_011541167.1:c.413C>G	XP_011539469.1:p.Pro138Arg
XM_005245821.3:c.671C>G	XP_005245878.1:p.Pro224Arg
XM_011541167.3:c.413C>G	XP_011539469.1:p.Pro138Arg
XM_017000905.2:c.743C>G	XP_016856394.1:p.Pro248Arg
NM_000147.5:c.1046C>G MANE Select	NP_000138.2:p.Pro349Arg
NR_174379.1:n.1224C>G
NR_174380.1:n.1273C>G
NR_174381.1:n.1112C>G
NR_174382.1:n.1509C>G