Canonical Allele Identifier: CA416626772

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175177T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848687T>G , CM000663.2:g.23848687T>G	GRCh38
NC_000001.10:g.24175177T>G , CM000663.1:g.24175177T>G	GRCh37
NC_000001.9:g.24047764T>G	NCBI36
NG_013346.1:g.24683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1122A>C MANE Select	ENSP00000363603.3:p.Pro374=
ENST00000374479.3:c.1122A>C	ENSP00000363603.3:p.Pro374=
NM_000147.4:c.1122A>C	NP_000138.2:p.Pro374=
XM_005245821.1:c.747A>C	XP_005245878.1:p.Pro249=
XM_011541167.1:c.489A>C	XP_011539469.1:p.Pro163=
XM_005245821.3:c.747A>C	XP_005245878.1:p.Pro249=
XM_011541167.3:c.489A>C	XP_011539469.1:p.Pro163=
XM_017000905.2:c.819A>C	XP_016856394.1:p.Pro273=
NM_000147.5:c.1122A>C MANE Select	NP_000138.2:p.Pro374=
NR_174379.1:n.1300A>C
NR_174380.1:n.1349A>C
NR_174381.1:n.1188A>C
NR_174382.1:n.1585A>C