Canonical Allele Identifier: CA339036745

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175317T>A (hg19) ; chr1:g.23848827T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848827T>A , CM000663.2:g.23848827T>A	GRCh38
NC_000001.10:g.24175317T>A , CM000663.1:g.24175317T>A	GRCh37
NC_000001.9:g.24047904T>A	NCBI36
NG_013346.1:g.24543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.982A>T MANE Select	ENSP00000363603.3:p.Thr328Ser
ENST00000374479.3:c.982A>T	ENSP00000363603.3:p.Thr328Ser
NM_000147.4:c.982A>T	NP_000138.2:p.Thr328Ser
XM_005245821.1:c.607A>T	XP_005245878.1:p.Thr203Ser
XM_011541167.1:c.349A>T	XP_011539469.1:p.Thr117Ser
XM_005245821.3:c.607A>T	XP_005245878.1:p.Thr203Ser
XM_011541167.3:c.349A>T	XP_011539469.1:p.Thr117Ser
XM_017000905.2:c.679A>T	XP_016856394.1:p.Thr227Ser
NM_000147.5:c.982A>T MANE Select	NP_000138.2:p.Thr328Ser
NR_174379.1:n.1160A>T
NR_174380.1:n.1209A>T
NR_174381.1:n.1048A>T
NR_174382.1:n.1445A>T