Canonical Allele Identifier: CA339036111

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175185A>T (hg19) ; chr1:g.23848695A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848695A>T , CM000663.2:g.23848695A>T	GRCh38
NC_000001.10:g.24175185A>T , CM000663.1:g.24175185A>T	GRCh37
NC_000001.9:g.24047772A>T	NCBI36
NG_013346.1:g.24675T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1114T>A MANE Select	ENSP00000363603.3:p.Ser372Thr
ENST00000374479.3:c.1114T>A	ENSP00000363603.3:p.Ser372Thr
NM_000147.4:c.1114T>A	NP_000138.2:p.Ser372Thr
XM_005245821.1:c.739T>A	XP_005245878.1:p.Ser247Thr
XM_011541167.1:c.481T>A	XP_011539469.1:p.Ser161Thr
XM_005245821.3:c.739T>A	XP_005245878.1:p.Ser247Thr
XM_011541167.3:c.481T>A	XP_011539469.1:p.Ser161Thr
XM_017000905.2:c.811T>A	XP_016856394.1:p.Ser271Thr
NM_000147.5:c.1114T>A MANE Select	NP_000138.2:p.Ser372Thr
NR_174379.1:n.1292T>A
NR_174380.1:n.1341T>A
NR_174381.1:n.1180T>A
NR_174382.1:n.1577T>A