Canonical Allele Identifier: CA339007720

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192092T>A (hg19) ; chr1:g.23865602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865602T>A , CM000663.2:g.23865602T>A	GRCh38
NC_000001.10:g.24192092T>A , CM000663.1:g.24192092T>A	GRCh37
NC_000001.9:g.24064679T>A	NCBI36
NG_013346.1:g.7768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.413A>T MANE Select	ENSP00000363603.3:p.His138Leu
ENST00000374479.3:c.413A>T	ENSP00000363603.3:p.His138Leu
NM_000147.4:c.413A>T	NP_000138.2:p.His138Leu
XM_005245821.1:c.38A>T	XP_005245878.1:p.His13Leu
XM_011541167.1:c.-221A>T	XP_011539469.1:n.-221A>T
XM_005245821.3:c.38A>T	XP_005245878.1:p.His13Leu
XM_011541167.3:c.-221A>T	XP_011539469.1:n.-221A>T
XM_017000905.2:c.110A>T	XP_016856394.1:p.His37Leu
NM_000147.5:c.413A>T MANE Select	NP_000138.2:p.His138Leu
NR_174379.1:n.591A>T
NR_174380.1:n.640A>T
NR_174381.1:n.479A>T
NR_174382.1:n.876A>T