Canonical Allele Identifier: CA339007705

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192086T>G (hg19) ; chr1:g.23865596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865596T>G , CM000663.2:g.23865596T>G	GRCh38
NC_000001.10:g.24192086T>G , CM000663.1:g.24192086T>G	GRCh37
NC_000001.9:g.24064673T>G	NCBI36
NG_013346.1:g.7774A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.419A>C MANE Select	ENSP00000363603.3:p.Glu140Ala
ENST00000374479.3:c.419A>C	ENSP00000363603.3:p.Glu140Ala
NM_000147.4:c.419A>C	NP_000138.2:p.Glu140Ala
XM_005245821.1:c.44A>C	XP_005245878.1:p.Glu15Ala
XM_011541167.1:c.-215A>C	XP_011539469.1:n.-215A>C
XM_005245821.3:c.44A>C	XP_005245878.1:p.Glu15Ala
XM_011541167.3:c.-215A>C	XP_011539469.1:n.-215A>C
XM_017000905.2:c.116A>C	XP_016856394.1:p.Glu39Ala
NM_000147.5:c.419A>C MANE Select	NP_000138.2:p.Glu140Ala
NR_174379.1:n.597A>C
NR_174380.1:n.646A>C
NR_174381.1:n.485A>C
NR_174382.1:n.882A>C