Canonical Allele Identifier: CA339036205

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175198C>G (hg19) ; chr1:g.23848708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848708C>G , CM000663.2:g.23848708C>G	GRCh38
NC_000001.10:g.24175198C>G , CM000663.1:g.24175198C>G	GRCh37
NC_000001.9:g.24047785C>G	NCBI36
NG_013346.1:g.24662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1101G>C MANE Select	ENSP00000363603.3:p.Glu367Asp
ENST00000374479.3:c.1101G>C	ENSP00000363603.3:p.Glu367Asp
NM_000147.4:c.1101G>C	NP_000138.2:p.Glu367Asp
XM_005245821.1:c.726G>C	XP_005245878.1:p.Glu242Asp
XM_011541167.1:c.468G>C	XP_011539469.1:p.Glu156Asp
XM_005245821.3:c.726G>C	XP_005245878.1:p.Glu242Asp
XM_011541167.3:c.468G>C	XP_011539469.1:p.Glu156Asp
XM_017000905.2:c.798G>C	XP_016856394.1:p.Glu266Asp
NM_000147.5:c.1101G>C MANE Select	NP_000138.2:p.Glu367Asp
NR_174379.1:n.1279G>C
NR_174380.1:n.1328G>C
NR_174381.1:n.1167G>C
NR_174382.1:n.1564G>C