Canonical Allele Identifier: CA339007709

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865597-C-T
• MyVariant Identifiers: chr1:g.24192087C>T (hg19) ; chr1:g.23865597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865597C>T , CM000663.2:g.23865597C>T	GRCh38
NC_000001.10:g.24192087C>T , CM000663.1:g.24192087C>T	GRCh37
NC_000001.9:g.24064674C>T	NCBI36
NG_013346.1:g.7773G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.418G>A MANE Select	ENSP00000363603.3:p.Glu140Lys
ENST00000374479.3:c.418G>A	ENSP00000363603.3:p.Glu140Lys
NM_000147.4:c.418G>A	NP_000138.2:p.Glu140Lys
XM_005245821.1:c.43G>A	XP_005245878.1:p.Glu15Lys
XM_011541167.1:c.-216G>A	XP_011539469.1:n.-216G>A
XM_005245821.3:c.43G>A	XP_005245878.1:p.Glu15Lys
XM_011541167.3:c.-216G>A	XP_011539469.1:n.-216G>A
XM_017000905.2:c.115G>A	XP_016856394.1:p.Glu39Lys
NM_000147.5:c.418G>A MANE Select	NP_000138.2:p.Glu140Lys
NR_174379.1:n.596G>A
NR_174380.1:n.645G>A
NR_174381.1:n.484G>A
NR_174382.1:n.881G>A