Canonical Allele Identifier: CA339007710

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192088G>C (hg19) ; chr1:g.23865598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865598G>C , CM000663.2:g.23865598G>C	GRCh38
NC_000001.10:g.24192088G>C , CM000663.1:g.24192088G>C	GRCh37
NC_000001.9:g.24064675G>C	NCBI36
NG_013346.1:g.7772C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.417C>G MANE Select	ENSP00000363603.3:p.His139Gln
ENST00000374479.3:c.417C>G	ENSP00000363603.3:p.His139Gln
NM_000147.4:c.417C>G	NP_000138.2:p.His139Gln
XM_005245821.1:c.42C>G	XP_005245878.1:p.His14Gln
XM_011541167.1:c.-217C>G	XP_011539469.1:n.-217C>G
XM_005245821.3:c.42C>G	XP_005245878.1:p.His14Gln
XM_011541167.3:c.-217C>G	XP_011539469.1:n.-217C>G
XM_017000905.2:c.114C>G	XP_016856394.1:p.His38Gln
NM_000147.5:c.417C>G MANE Select	NP_000138.2:p.His139Gln
NR_174379.1:n.595C>G
NR_174380.1:n.644C>G
NR_174381.1:n.483C>G
NR_174382.1:n.880C>G