Canonical Allele Identifier: CA339035851

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175152T>A (hg19) ; chr1:g.23848662T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848662T>A , CM000663.2:g.23848662T>A	GRCh38
NC_000001.10:g.24175152T>A , CM000663.1:g.24175152T>A	GRCh37
NC_000001.9:g.24047739T>A	NCBI36
NG_013346.1:g.24708A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1147A>T MANE Select	ENSP00000363603.3:p.Thr383Ser
ENST00000374479.3:c.1147A>T	ENSP00000363603.3:p.Thr383Ser
NM_000147.4:c.1147A>T	NP_000138.2:p.Thr383Ser
XM_005245821.1:c.772A>T	XP_005245878.1:p.Thr258Ser
XM_011541167.1:c.514A>T	XP_011539469.1:p.Thr172Ser
XM_005245821.3:c.772A>T	XP_005245878.1:p.Thr258Ser
XM_011541167.3:c.514A>T	XP_011539469.1:p.Thr172Ser
XM_017000905.2:c.844A>T	XP_016856394.1:p.Thr282Ser
NM_000147.5:c.1147A>T MANE Select	NP_000138.2:p.Thr383Ser
NR_174379.1:n.1325A>T
NR_174380.1:n.1374A>T
NR_174381.1:n.1213A>T
NR_174382.1:n.1610A>T