Canonical Allele Identifier: CA339035952

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 1993374
• ClinVar RCV Id: RCV002814591
• MyVariant Identifiers: chr1:g.24175163C>G (hg19) ; chr1:g.23848673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848673C>G , CM000663.2:g.23848673C>G	GRCh38
NC_000001.10:g.24175163C>G , CM000663.1:g.24175163C>G	GRCh37
NC_000001.9:g.24047750C>G	NCBI36
NG_013346.1:g.24697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1136G>C MANE Select	ENSP00000363603.3:p.Trp379Ser
ENST00000374479.3:c.1136G>C	ENSP00000363603.3:p.Trp379Ser
NM_000147.4:c.1136G>C	NP_000138.2:p.Trp379Ser
XM_005245821.1:c.761G>C	XP_005245878.1:p.Trp254Ser
XM_011541167.1:c.503G>C	XP_011539469.1:p.Trp168Ser
XM_005245821.3:c.761G>C	XP_005245878.1:p.Trp254Ser
XM_011541167.3:c.503G>C	XP_011539469.1:p.Trp168Ser
XM_017000905.2:c.833G>C	XP_016856394.1:p.Trp278Ser
NM_000147.5:c.1136G>C MANE Select	NP_000138.2:p.Trp379Ser
NR_174379.1:n.1314G>C
NR_174380.1:n.1363G>C
NR_174381.1:n.1202G>C
NR_174382.1:n.1599G>C