Canonical Allele Identifier: CA416626846

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175255A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848765A>G , CM000663.2:g.23848765A>G	GRCh38
NC_000001.10:g.24175255A>G , CM000663.1:g.24175255A>G	GRCh37
NC_000001.9:g.24047842A>G	NCBI36
NG_013346.1:g.24605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1044T>C MANE Select	ENSP00000363603.3:p.Val348=
ENST00000374479.3:c.1044T>C	ENSP00000363603.3:p.Val348=
NM_000147.4:c.1044T>C	NP_000138.2:p.Val348=
XM_005245821.1:c.669T>C	XP_005245878.1:p.Val223=
XM_011541167.1:c.411T>C	XP_011539469.1:p.Val137=
XM_005245821.3:c.669T>C	XP_005245878.1:p.Val223=
XM_011541167.3:c.411T>C	XP_011539469.1:p.Val137=
XM_017000905.2:c.741T>C	XP_016856394.1:p.Val247=
NM_000147.5:c.1044T>C MANE Select	NP_000138.2:p.Val348=
NR_174379.1:n.1222T>C
NR_174380.1:n.1271T>C
NR_174381.1:n.1110T>C
NR_174382.1:n.1507T>C