Canonical Allele Identifier: CA416605280

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191992A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865502A>C , CM000663.2:g.23865502A>C	GRCh38
NC_000001.10:g.24191992A>C , CM000663.1:g.24191992A>C	GRCh37
NC_000001.9:g.24064579A>C	NCBI36
NG_013346.1:g.7868T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.513T>G MANE Select	ENSP00000363603.3:p.Ala171=
ENST00000374479.3:c.513T>G	ENSP00000363603.3:p.Ala171=
NM_000147.4:c.513T>G	NP_000138.2:p.Ala171=
XM_005245821.1:c.138T>G	XP_005245878.1:p.Ala46=
XM_011541167.1:c.-121T>G	XP_011539469.1:n.-121T>G
XM_005245821.3:c.138T>G	XP_005245878.1:p.Ala46=
XM_011541167.3:c.-121T>G	XP_011539469.1:n.-121T>G
XM_017000905.2:c.210T>G	XP_016856394.1:p.Ala70=
NM_000147.5:c.513T>G MANE Select	NP_000138.2:p.Ala171=
NR_174379.1:n.691T>G
NR_174380.1:n.740T>G
NR_174381.1:n.579T>G
NR_174382.1:n.976T>G