Canonical Allele Identifier: CA339035919

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639191279
• MyVariant Identifiers: chr1:g.24175160T>A (hg19) ; chr1:g.23848670T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848670T>A , CM000663.2:g.23848670T>A	GRCh38
NC_000001.10:g.24175160T>A , CM000663.1:g.24175160T>A	GRCh37
NC_000001.9:g.24047747T>A	NCBI36
NG_013346.1:g.24700A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1139A>T MANE Select	ENSP00000363603.3:p.Glu380Val
ENST00000374479.3:c.1139A>T	ENSP00000363603.3:p.Glu380Val
NM_000147.4:c.1139A>T	NP_000138.2:p.Glu380Val
XM_005245821.1:c.764A>T	XP_005245878.1:p.Glu255Val
XM_011541167.1:c.506A>T	XP_011539469.1:p.Glu169Val
XM_005245821.3:c.764A>T	XP_005245878.1:p.Glu255Val
XM_011541167.3:c.506A>T	XP_011539469.1:p.Glu169Val
XM_017000905.2:c.836A>T	XP_016856394.1:p.Glu279Val
NM_000147.5:c.1139A>T MANE Select	NP_000138.2:p.Glu380Val
NR_174379.1:n.1317A>T
NR_174380.1:n.1366A>T
NR_174381.1:n.1205A>T
NR_174382.1:n.1602A>T