Canonical Allele Identifier: CA339007716

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192090G>C (hg19) ; chr1:g.23865600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865600G>C , CM000663.2:g.23865600G>C	GRCh38
NC_000001.10:g.24192090G>C , CM000663.1:g.24192090G>C	GRCh37
NC_000001.9:g.24064677G>C	NCBI36
NG_013346.1:g.7770C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.415C>G MANE Select	ENSP00000363603.3:p.His139Asp
ENST00000374479.3:c.415C>G	ENSP00000363603.3:p.His139Asp
NM_000147.4:c.415C>G	NP_000138.2:p.His139Asp
XM_005245821.1:c.40C>G	XP_005245878.1:p.His14Asp
XM_011541167.1:c.-219C>G	XP_011539469.1:n.-219C>G
XM_005245821.3:c.40C>G	XP_005245878.1:p.His14Asp
XM_011541167.3:c.-219C>G	XP_011539469.1:n.-219C>G
XM_017000905.2:c.112C>G	XP_016856394.1:p.His38Asp
NM_000147.5:c.415C>G MANE Select	NP_000138.2:p.His139Asp
NR_174379.1:n.593C>G
NR_174380.1:n.642C>G
NR_174381.1:n.481C>G
NR_174382.1:n.878C>G