Canonical Allele Identifier: CA339036560

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2914319
• ClinVar RCV Id: RCV003598740
• dbSNP Id: rs1557506070
• MyVariant Identifiers: chr1:g.24175245G>A (hg19) ; chr1:g.23848755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848755G>A , CM000663.2:g.23848755G>A	GRCh38
NC_000001.10:g.24175245G>A , CM000663.1:g.24175245G>A	GRCh37
NC_000001.9:g.24047832G>A	NCBI36
NG_013346.1:g.24615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1054C>T MANE Select	ENSP00000363603.3:p.Gln352Ter
ENST00000374479.3:c.1054C>T	ENSP00000363603.3:p.Gln352Ter
NM_000147.4:c.1054C>T	NP_000138.2:p.Gln352Ter
XM_005245821.1:c.679C>T	XP_005245878.1:p.Gln227Ter
XM_011541167.1:c.421C>T	XP_011539469.1:p.Gln141Ter
XM_005245821.3:c.679C>T	XP_005245878.1:p.Gln227Ter
XM_011541167.3:c.421C>T	XP_011539469.1:p.Gln141Ter
XM_017000905.2:c.751C>T	XP_016856394.1:p.Gln251Ter
NM_000147.5:c.1054C>T MANE Select	NP_000138.2:p.Gln352Ter
NR_174379.1:n.1232C>T
NR_174380.1:n.1281C>T
NR_174381.1:n.1120C>T
NR_174382.1:n.1517C>T