Canonical Allele Identifier: CA339035973

Gene: FUCA1

Linked Data

• dbSNP Id: rs1570673087
• MyVariant Identifiers: chr1:g.24175167G>C (hg19) ; chr1:g.23848677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848677G>C , CM000663.2:g.23848677G>C	GRCh38
NC_000001.10:g.24175167G>C , CM000663.1:g.24175167G>C	GRCh37
NC_000001.9:g.24047754G>C	NCBI36
NG_013346.1:g.24693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1132C>G MANE Select	ENSP00000363603.3:p.Gln378Glu
ENST00000374479.3:c.1132C>G	ENSP00000363603.3:p.Gln378Glu
NM_000147.4:c.1132C>G	NP_000138.2:p.Gln378Glu
XM_005245821.1:c.757C>G	XP_005245878.1:p.Gln253Glu
XM_011541167.1:c.499C>G	XP_011539469.1:p.Gln167Glu
XM_005245821.3:c.757C>G	XP_005245878.1:p.Gln253Glu
XM_011541167.3:c.499C>G	XP_011539469.1:p.Gln167Glu
XM_017000905.2:c.829C>G	XP_016856394.1:p.Gln277Glu
NM_000147.5:c.1132C>G MANE Select	NP_000138.2:p.Gln378Glu
NR_174379.1:n.1310C>G
NR_174380.1:n.1359C>G
NR_174381.1:n.1198C>G
NR_174382.1:n.1595C>G