Canonical Allele Identifier: CA339007723

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192093G>A (hg19) ; chr1:g.23865603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865603G>A , CM000663.2:g.23865603G>A	GRCh38
NC_000001.10:g.24192093G>A , CM000663.1:g.24192093G>A	GRCh37
NC_000001.9:g.24064680G>A	NCBI36
NG_013346.1:g.7767C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.412C>T MANE Select	ENSP00000363603.3:p.His138Tyr
ENST00000374479.3:c.412C>T	ENSP00000363603.3:p.His138Tyr
NM_000147.4:c.412C>T	NP_000138.2:p.His138Tyr
XM_005245821.1:c.37C>T	XP_005245878.1:p.His13Tyr
XM_011541167.1:c.-222C>T	XP_011539469.1:n.-222C>T
XM_005245821.3:c.37C>T	XP_005245878.1:p.His13Tyr
XM_011541167.3:c.-222C>T	XP_011539469.1:n.-222C>T
XM_017000905.2:c.109C>T	XP_016856394.1:p.His37Tyr
NM_000147.5:c.412C>T MANE Select	NP_000138.2:p.His138Tyr
NR_174379.1:n.590C>T
NR_174380.1:n.639C>T
NR_174381.1:n.478C>T
NR_174382.1:n.875C>T