Canonical Allele Identifier: CA339036640

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175266C>G (hg19) ; chr1:g.23848776C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848776C>G , CM000663.2:g.23848776C>G	GRCh38
NC_000001.10:g.24175266C>G , CM000663.1:g.24175266C>G	GRCh37
NC_000001.9:g.24047853C>G	NCBI36
NG_013346.1:g.24594G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1033G>C MANE Select	ENSP00000363603.3:p.Gly345Arg
ENST00000374479.3:c.1033G>C	ENSP00000363603.3:p.Gly345Arg
NM_000147.4:c.1033G>C	NP_000138.2:p.Gly345Arg
XM_005245821.1:c.658G>C	XP_005245878.1:p.Gly220Arg
XM_011541167.1:c.400G>C	XP_011539469.1:p.Gly134Arg
XM_005245821.3:c.658G>C	XP_005245878.1:p.Gly220Arg
XM_011541167.3:c.400G>C	XP_011539469.1:p.Gly134Arg
XM_017000905.2:c.730G>C	XP_016856394.1:p.Gly244Arg
NM_000147.5:c.1033G>C MANE Select	NP_000138.2:p.Gly345Arg
NR_174379.1:n.1211G>C
NR_174380.1:n.1260G>C
NR_174381.1:n.1099G>C
NR_174382.1:n.1496G>C