Canonical Allele Identifier: CA339007712

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192089T>A (hg19) ; chr1:g.23865599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865599T>A , CM000663.2:g.23865599T>A	GRCh38
NC_000001.10:g.24192089T>A , CM000663.1:g.24192089T>A	GRCh37
NC_000001.9:g.24064676T>A	NCBI36
NG_013346.1:g.7771A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.416A>T MANE Select	ENSP00000363603.3:p.His139Leu
ENST00000374479.3:c.416A>T	ENSP00000363603.3:p.His139Leu
NM_000147.4:c.416A>T	NP_000138.2:p.His139Leu
XM_005245821.1:c.41A>T	XP_005245878.1:p.His14Leu
XM_011541167.1:c.-218A>T	XP_011539469.1:n.-218A>T
XM_005245821.3:c.41A>T	XP_005245878.1:p.His14Leu
XM_011541167.3:c.-218A>T	XP_011539469.1:n.-218A>T
XM_017000905.2:c.113A>T	XP_016856394.1:p.His38Leu
NM_000147.5:c.416A>T MANE Select	NP_000138.2:p.His139Leu
NR_174379.1:n.594A>T
NR_174380.1:n.643A>T
NR_174381.1:n.482A>T
NR_174382.1:n.879A>T