Canonical Allele Identifier: CA416605447

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192094C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865604C>T , CM000663.2:g.23865604C>T	GRCh38
NC_000001.10:g.24192094C>T , CM000663.1:g.24192094C>T	GRCh37
NC_000001.9:g.24064681C>T	NCBI36
NG_013346.1:g.7766G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.411G>A MANE Select	ENSP00000363603.3:p.Lys137=
ENST00000374479.3:c.411G>A	ENSP00000363603.3:p.Lys137=
NM_000147.4:c.411G>A	NP_000138.2:p.Lys137=
XM_005245821.1:c.36G>A	XP_005245878.1:p.Lys12=
XM_011541167.1:c.-223G>A	XP_011539469.1:n.-223G>A
XM_005245821.3:c.36G>A	XP_005245878.1:p.Lys12=
XM_011541167.3:c.-223G>A	XP_011539469.1:n.-223G>A
XM_017000905.2:c.108G>A	XP_016856394.1:p.Lys36=
NM_000147.5:c.411G>A MANE Select	NP_000138.2:p.Lys137=
NR_174379.1:n.589G>A
NR_174380.1:n.638G>A
NR_174381.1:n.477G>A
NR_174382.1:n.874G>A