Canonical Allele Identifier: CA339036084

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175181T>A (hg19) ; chr1:g.23848691T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848691T>A , CM000663.2:g.23848691T>A	GRCh38
NC_000001.10:g.24175181T>A , CM000663.1:g.24175181T>A	GRCh37
NC_000001.9:g.24047768T>A	NCBI36
NG_013346.1:g.24679A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1118A>T MANE Select	ENSP00000363603.3:p.Lys373Ile
ENST00000374479.3:c.1118A>T	ENSP00000363603.3:p.Lys373Ile
NM_000147.4:c.1118A>T	NP_000138.2:p.Lys373Ile
XM_005245821.1:c.743A>T	XP_005245878.1:p.Lys248Ile
XM_011541167.1:c.485A>T	XP_011539469.1:p.Lys162Ile
XM_005245821.3:c.743A>T	XP_005245878.1:p.Lys248Ile
XM_011541167.3:c.485A>T	XP_011539469.1:p.Lys162Ile
XM_017000905.2:c.815A>T	XP_016856394.1:p.Lys272Ile
NM_000147.5:c.1118A>T MANE Select	NP_000138.2:p.Lys373Ile
NR_174379.1:n.1296A>T
NR_174380.1:n.1345A>T
NR_174381.1:n.1184A>T
NR_174382.1:n.1581A>T