Canonical Allele Identifier: CA339036315

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175211C>G (hg19) ; chr1:g.23848721C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848721C>G , CM000663.2:g.23848721C>G	GRCh38
NC_000001.10:g.24175211C>G , CM000663.1:g.24175211C>G	GRCh37
NC_000001.9:g.24047798C>G	NCBI36
NG_013346.1:g.24649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1088G>C MANE Select	ENSP00000363603.3:p.Ser363Thr
ENST00000374479.3:c.1088G>C	ENSP00000363603.3:p.Ser363Thr
NM_000147.4:c.1088G>C	NP_000138.2:p.Ser363Thr
XM_005245821.1:c.713G>C	XP_005245878.1:p.Ser238Thr
XM_011541167.1:c.455G>C	XP_011539469.1:p.Ser152Thr
XM_005245821.3:c.713G>C	XP_005245878.1:p.Ser238Thr
XM_011541167.3:c.455G>C	XP_011539469.1:p.Ser152Thr
XM_017000905.2:c.785G>C	XP_016856394.1:p.Ser262Thr
NM_000147.5:c.1088G>C MANE Select	NP_000138.2:p.Ser363Thr
NR_174379.1:n.1266G>C
NR_174380.1:n.1315G>C
NR_174381.1:n.1154G>C
NR_174382.1:n.1551G>C