Canonical Allele Identifier: CA339007295

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191987C>A (hg19) ; chr1:g.23865497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865497C>A , CM000663.2:g.23865497C>A	GRCh38
NC_000001.10:g.24191987C>A , CM000663.1:g.24191987C>A	GRCh37
NC_000001.9:g.24064574C>A	NCBI36
NG_013346.1:g.7873G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.518G>T MANE Select	ENSP00000363603.3:p.Arg173Leu
ENST00000374479.3:c.518G>T	ENSP00000363603.3:p.Arg173Leu
NM_000147.4:c.518G>T	NP_000138.2:p.Arg173Leu
XM_005245821.1:c.143G>T	XP_005245878.1:p.Arg48Leu
XM_011541167.1:c.-116G>T	XP_011539469.1:n.-116G>T
XM_005245821.3:c.143G>T	XP_005245878.1:p.Arg48Leu
XM_011541167.3:c.-116G>T	XP_011539469.1:n.-116G>T
XM_017000905.2:c.215G>T	XP_016856394.1:p.Arg72Leu
NM_000147.5:c.518G>T MANE Select	NP_000138.2:p.Arg173Leu
NR_174379.1:n.696G>T
NR_174380.1:n.745G>T
NR_174381.1:n.584G>T
NR_174382.1:n.981G>T