Canonical Allele Identifier: CA416691140

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24194477G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23867987G>T , CM000663.2:g.23867987G>T	GRCh38
NC_000001.10:g.24194477G>T , CM000663.1:g.24194477G>T	GRCh37
NC_000001.9:g.24067064G>T	NCBI36
NG_013346.1:g.5383C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.300C>A MANE Select	ENSP00000363603.3:p.Gly100=
ENST00000374479.3:c.300C>A	ENSP00000363603.3:p.Gly100=
NM_000147.4:c.300C>A	NP_000138.2:p.Gly100=
XM_005245821.1:c.-250C>A	XP_005245878.1:n.-250C>A
XM_005245821.3:c.-250C>A	XP_005245878.1:n.-250C>A
NM_000147.5:c.300C>A MANE Select	NP_000138.2:p.Gly100=
NR_174379.1:n.304C>A
NR_174380.1:n.304C>A
NR_174381.1:n.304C>A
NR_174382.1:n.304C>A