Canonical Allele Identifier: CA150624

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 100720
• ClinVar RCV Id: RCV000087085
• dbSNP Id: rs587779398
• MyVariant Identifiers: chr1:g.24192041G>A (hg19) ; chr1:g.23865551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865551G>A , CM000663.2:g.23865551G>A	GRCh38
NC_000001.10:g.24192041G>A , CM000663.1:g.24192041G>A	GRCh37
NC_000001.9:g.24064628G>A	NCBI36
NG_013346.1:g.7819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.464C>T MANE Select	ENSP00000363603.3:p.Ser155Phe
ENST00000374479.3:c.464C>T	ENSP00000363603.3:p.Ser155Phe
NM_000147.4:c.464C>T	NP_000138.2:p.Ser155Phe
XM_005245821.1:c.89C>T	XP_005245878.1:p.Ser30Phe
XM_011541167.1:c.-170C>T	XP_011539469.1:n.-170C>T
XM_005245821.3:c.89C>T	XP_005245878.1:p.Ser30Phe
XM_011541167.3:c.-170C>T	XP_011539469.1:n.-170C>T
XM_017000905.2:c.161C>T	XP_016856394.1:p.Ser54Phe
NM_000147.5:c.464C>T MANE Select	NP_000138.2:p.Ser155Phe
NR_174379.1:n.642C>T
NR_174380.1:n.691C>T
NR_174381.1:n.530C>T
NR_174382.1:n.927C>T