Canonical Allele Identifier: CA339035904

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175158T>A (hg19) ; chr1:g.23848668T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848668T>A , CM000663.2:g.23848668T>A	GRCh38
NC_000001.10:g.24175158T>A , CM000663.1:g.24175158T>A	GRCh37
NC_000001.9:g.24047745T>A	NCBI36
NG_013346.1:g.24702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1141A>T MANE Select	ENSP00000363603.3:p.Lys381Ter
ENST00000374479.3:c.1141A>T	ENSP00000363603.3:p.Lys381Ter
NM_000147.4:c.1141A>T	NP_000138.2:p.Lys381Ter
XM_005245821.1:c.766A>T	XP_005245878.1:p.Lys256Ter
XM_011541167.1:c.508A>T	XP_011539469.1:p.Lys170Ter
XM_005245821.3:c.766A>T	XP_005245878.1:p.Lys256Ter
XM_011541167.3:c.508A>T	XP_011539469.1:p.Lys170Ter
XM_017000905.2:c.838A>T	XP_016856394.1:p.Lys280Ter
NM_000147.5:c.1141A>T MANE Select	NP_000138.2:p.Lys381Ter
NR_174379.1:n.1319A>T
NR_174380.1:n.1368A>T
NR_174381.1:n.1207A>T
NR_174382.1:n.1604A>T