Canonical Allele Identifier: CA416605425

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192085T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865595T>C , CM000663.2:g.23865595T>C	GRCh38
NC_000001.10:g.24192085T>C , CM000663.1:g.24192085T>C	GRCh37
NC_000001.9:g.24064672T>C	NCBI36
NG_013346.1:g.7775A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.420A>G MANE Select	ENSP00000363603.3:p.Glu140=
ENST00000374479.3:c.420A>G	ENSP00000363603.3:p.Glu140=
NM_000147.4:c.420A>G	NP_000138.2:p.Glu140=
XM_005245821.1:c.45A>G	XP_005245878.1:p.Glu15=
XM_011541167.1:c.-214A>G	XP_011539469.1:n.-214A>G
XM_005245821.3:c.45A>G	XP_005245878.1:p.Glu15=
XM_011541167.3:c.-214A>G	XP_011539469.1:n.-214A>G
XM_017000905.2:c.117A>G	XP_016856394.1:p.Glu39=
NM_000147.5:c.420A>G MANE Select	NP_000138.2:p.Glu140=
NR_174379.1:n.598A>G
NR_174380.1:n.647A>G
NR_174381.1:n.486A>G
NR_174382.1:n.883A>G