Canonical Allele Identifier: CA339036607

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175254G>T (hg19) ; chr1:g.23848764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848764G>T , CM000663.2:g.23848764G>T	GRCh38
NC_000001.10:g.24175254G>T , CM000663.1:g.24175254G>T	GRCh37
NC_000001.9:g.24047841G>T	NCBI36
NG_013346.1:g.24606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1045C>A MANE Select	ENSP00000363603.3:p.Pro349Thr
ENST00000374479.3:c.1045C>A	ENSP00000363603.3:p.Pro349Thr
NM_000147.4:c.1045C>A	NP_000138.2:p.Pro349Thr
XM_005245821.1:c.670C>A	XP_005245878.1:p.Pro224Thr
XM_011541167.1:c.412C>A	XP_011539469.1:p.Pro138Thr
XM_005245821.3:c.670C>A	XP_005245878.1:p.Pro224Thr
XM_011541167.3:c.412C>A	XP_011539469.1:p.Pro138Thr
XM_017000905.2:c.742C>A	XP_016856394.1:p.Pro248Thr
NM_000147.5:c.1045C>A MANE Select	NP_000138.2:p.Pro349Thr
NR_174379.1:n.1223C>A
NR_174380.1:n.1272C>A
NR_174381.1:n.1111C>A
NR_174382.1:n.1508C>A