Canonical Allele Identifier: CA416626833

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175239T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848749T>G , CM000663.2:g.23848749T>G	GRCh38
NC_000001.10:g.24175239T>G , CM000663.1:g.24175239T>G	GRCh37
NC_000001.9:g.24047826T>G	NCBI36
NG_013346.1:g.24621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1060A>C MANE Select	ENSP00000363603.3:p.Arg354=
ENST00000374479.3:c.1060A>C	ENSP00000363603.3:p.Arg354=
NM_000147.4:c.1060A>C	NP_000138.2:p.Arg354=
XM_005245821.1:c.685A>C	XP_005245878.1:p.Arg229=
XM_011541167.1:c.427A>C	XP_011539469.1:p.Arg143=
XM_005245821.3:c.685A>C	XP_005245878.1:p.Arg229=
XM_011541167.3:c.427A>C	XP_011539469.1:p.Arg143=
XM_017000905.2:c.757A>C	XP_016856394.1:p.Arg253=
NM_000147.5:c.1060A>C MANE Select	NP_000138.2:p.Arg354=
NR_174379.1:n.1238A>C
NR_174380.1:n.1287A>C
NR_174381.1:n.1126A>C
NR_174382.1:n.1523A>C