Canonical Allele Identifier: CA339036582

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175249G>C (hg19) ; chr1:g.23848759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848759G>C , CM000663.2:g.23848759G>C	GRCh38
NC_000001.10:g.24175249G>C , CM000663.1:g.24175249G>C	GRCh37
NC_000001.9:g.24047836G>C	NCBI36
NG_013346.1:g.24611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1050C>G MANE Select	ENSP00000363603.3:p.Ile350Met
ENST00000374479.3:c.1050C>G	ENSP00000363603.3:p.Ile350Met
NM_000147.4:c.1050C>G	NP_000138.2:p.Ile350Met
XM_005245821.1:c.675C>G	XP_005245878.1:p.Ile225Met
XM_011541167.1:c.417C>G	XP_011539469.1:p.Ile139Met
XM_005245821.3:c.675C>G	XP_005245878.1:p.Ile225Met
XM_011541167.3:c.417C>G	XP_011539469.1:p.Ile139Met
XM_017000905.2:c.747C>G	XP_016856394.1:p.Ile249Met
NM_000147.5:c.1050C>G MANE Select	NP_000138.2:p.Ile350Met
NR_174379.1:n.1228C>G
NR_174380.1:n.1277C>G
NR_174381.1:n.1116C>G
NR_174382.1:n.1513C>G