Canonical Allele Identifier: CA339007279

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191982T>C (hg19) ; chr1:g.23865492T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865492T>C , CM000663.2:g.23865492T>C	GRCh38
NC_000001.10:g.24191982T>C , CM000663.1:g.24191982T>C	GRCh37
NC_000001.9:g.24064569T>C	NCBI36
NG_013346.1:g.7878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.523A>G MANE Select	ENSP00000363603.3:p.Arg175Gly
ENST00000374479.3:c.523A>G	ENSP00000363603.3:p.Arg175Gly
NM_000147.4:c.523A>G	NP_000138.2:p.Arg175Gly
XM_005245821.1:c.148A>G	XP_005245878.1:p.Arg50Gly
XM_011541167.1:c.-111A>G	XP_011539469.1:n.-111A>G
XM_005245821.3:c.148A>G	XP_005245878.1:p.Arg50Gly
XM_011541167.3:c.-111A>G	XP_011539469.1:n.-111A>G
XM_017000905.2:c.220A>G	XP_016856394.1:p.Arg74Gly
NM_000147.5:c.523A>G MANE Select	NP_000138.2:p.Arg175Gly
NR_174379.1:n.701A>G
NR_174380.1:n.750A>G
NR_174381.1:n.589A>G
NR_174382.1:n.986A>G