Canonical Allele Identifier: CA339007310

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191991G>A (hg19) ; chr1:g.23865501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865501G>A , CM000663.2:g.23865501G>A	GRCh38
NC_000001.10:g.24191991G>A , CM000663.1:g.24191991G>A	GRCh37
NC_000001.9:g.24064578G>A	NCBI36
NG_013346.1:g.7869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.514C>T MANE Select	ENSP00000363603.3:p.Leu172Phe
ENST00000374479.3:c.514C>T	ENSP00000363603.3:p.Leu172Phe
NM_000147.4:c.514C>T	NP_000138.2:p.Leu172Phe
XM_005245821.1:c.139C>T	XP_005245878.1:p.Leu47Phe
XM_011541167.1:c.-120C>T	XP_011539469.1:n.-120C>T
XM_005245821.3:c.139C>T	XP_005245878.1:p.Leu47Phe
XM_011541167.3:c.-120C>T	XP_011539469.1:n.-120C>T
XM_017000905.2:c.211C>T	XP_016856394.1:p.Leu71Phe
NM_000147.5:c.514C>T MANE Select	NP_000138.2:p.Leu172Phe
NR_174379.1:n.692C>T
NR_174380.1:n.741C>T
NR_174381.1:n.580C>T
NR_174382.1:n.977C>T