Canonical Allele Identifier: CA339036133

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175188C>T (hg19) ; chr1:g.23848698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848698C>T , CM000663.2:g.23848698C>T	GRCh38
NC_000001.10:g.24175188C>T , CM000663.1:g.24175188C>T	GRCh37
NC_000001.9:g.24047775C>T	NCBI36
NG_013346.1:g.24672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1111G>A MANE Select	ENSP00000363603.3:p.Ala371Thr
ENST00000374479.3:c.1111G>A	ENSP00000363603.3:p.Ala371Thr
NM_000147.4:c.1111G>A	NP_000138.2:p.Ala371Thr
XM_005245821.1:c.736G>A	XP_005245878.1:p.Ala246Thr
XM_011541167.1:c.478G>A	XP_011539469.1:p.Ala160Thr
XM_005245821.3:c.736G>A	XP_005245878.1:p.Ala246Thr
XM_011541167.3:c.478G>A	XP_011539469.1:p.Ala160Thr
XM_017000905.2:c.808G>A	XP_016856394.1:p.Ala270Thr
NM_000147.5:c.1111G>A MANE Select	NP_000138.2:p.Ala371Thr
NR_174379.1:n.1289G>A
NR_174380.1:n.1338G>A
NR_174381.1:n.1177G>A
NR_174382.1:n.1574G>A