Canonical Allele Identifier: CA416605453

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192097T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865607T>A , CM000663.2:g.23865607T>A	GRCh38
NC_000001.10:g.24192097T>A , CM000663.1:g.24192097T>A	GRCh37
NC_000001.9:g.24064684T>A	NCBI36
NG_013346.1:g.7763A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.408A>T MANE Select	ENSP00000363603.3:p.Thr136=
ENST00000374479.3:c.408A>T	ENSP00000363603.3:p.Thr136=
NM_000147.4:c.408A>T	NP_000138.2:p.Thr136=
XM_005245821.1:c.33A>T	XP_005245878.1:p.Thr11=
XM_011541167.1:c.-226A>T	XP_011539469.1:n.-226A>T
XM_005245821.3:c.33A>T	XP_005245878.1:p.Thr11=
XM_011541167.3:c.-226A>T	XP_011539469.1:n.-226A>T
XM_017000905.2:c.105A>T	XP_016856394.1:p.Thr35=
NM_000147.5:c.408A>T MANE Select	NP_000138.2:p.Thr136=
NR_174379.1:n.586A>T
NR_174380.1:n.635A>T
NR_174381.1:n.474A>T
NR_174382.1:n.871A>T