Canonical Allele Identifier: CA339036613

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639196012
• MyVariant Identifiers: chr1:g.24175256A>G (hg19) ; chr1:g.23848766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848766A>G , CM000663.2:g.23848766A>G	GRCh38
NC_000001.10:g.24175256A>G , CM000663.1:g.24175256A>G	GRCh37
NC_000001.9:g.24047843A>G	NCBI36
NG_013346.1:g.24604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1043T>C MANE Select	ENSP00000363603.3:p.Val348Ala
ENST00000374479.3:c.1043T>C	ENSP00000363603.3:p.Val348Ala
NM_000147.4:c.1043T>C	NP_000138.2:p.Val348Ala
XM_005245821.1:c.668T>C	XP_005245878.1:p.Val223Ala
XM_011541167.1:c.410T>C	XP_011539469.1:p.Val137Ala
XM_005245821.3:c.668T>C	XP_005245878.1:p.Val223Ala
XM_011541167.3:c.410T>C	XP_011539469.1:p.Val137Ala
XM_017000905.2:c.740T>C	XP_016856394.1:p.Val247Ala
NM_000147.5:c.1043T>C MANE Select	NP_000138.2:p.Val348Ala
NR_174379.1:n.1221T>C
NR_174380.1:n.1270T>C
NR_174381.1:n.1109T>C
NR_174382.1:n.1506T>C