Canonical Allele Identifier: CA339035808

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175146A>C (hg19) ; chr1:g.23848656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848656A>C , CM000663.2:g.23848656A>C	GRCh38
NC_000001.10:g.24175146A>C , CM000663.1:g.24175146A>C	GRCh37
NC_000001.9:g.24047733A>C	NCBI36
NG_013346.1:g.24714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1153T>G MANE Select	ENSP00000363603.3:p.Ser385Ala
ENST00000374479.3:c.1153T>G	ENSP00000363603.3:p.Ser385Ala
NM_000147.4:c.1153T>G	NP_000138.2:p.Ser385Ala
XM_005245821.1:c.778T>G	XP_005245878.1:p.Ser260Ala
XM_011541167.1:c.520T>G	XP_011539469.1:p.Ser174Ala
XM_005245821.3:c.778T>G	XP_005245878.1:p.Ser260Ala
XM_011541167.3:c.520T>G	XP_011539469.1:p.Ser174Ala
XM_017000905.2:c.850T>G	XP_016856394.1:p.Ser284Ala
NM_000147.5:c.1153T>G MANE Select	NP_000138.2:p.Ser385Ala
NR_174379.1:n.1331T>G
NR_174380.1:n.1380T>G
NR_174381.1:n.1219T>G
NR_174382.1:n.1616T>G