Canonical Allele Identifier: CA339007312

Gene: FUCA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.514C>G MANE Select	ENSP00000363603.3:p.Leu172Val
ENST00000374479.3:c.514C>G	ENSP00000363603.3:p.Leu172Val
NM_000147.4:c.514C>G	NP_000138.2:p.Leu172Val
XM_005245821.1:c.139C>G	XP_005245878.1:p.Leu47Val
XM_011541167.1:c.-120C>G	XP_011539469.1:n.-120C>G
XM_005245821.3:c.139C>G	XP_005245878.1:p.Leu47Val
XM_011541167.3:c.-120C>G	XP_011539469.1:n.-120C>G
XM_017000905.2:c.211C>G	XP_016856394.1:p.Leu71Val
NM_000147.5:c.514C>G MANE Select	NP_000138.2:p.Leu172Val
NR_174379.1:n.692C>G
NR_174380.1:n.741C>G
NR_174381.1:n.580C>G
NR_174382.1:n.977C>G