Canonical Allele Identifier: CA339036409

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175221T>C (hg19) ; chr1:g.23848731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848731T>C , CM000663.2:g.23848731T>C	GRCh38
NC_000001.10:g.24175221T>C , CM000663.1:g.24175221T>C	GRCh37
NC_000001.9:g.24047808T>C	NCBI36
NG_013346.1:g.24639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1078A>G MANE Select	ENSP00000363603.3:p.Lys360Glu
ENST00000374479.3:c.1078A>G	ENSP00000363603.3:p.Lys360Glu
NM_000147.4:c.1078A>G	NP_000138.2:p.Lys360Glu
XM_005245821.1:c.703A>G	XP_005245878.1:p.Lys235Glu
XM_011541167.1:c.445A>G	XP_011539469.1:p.Lys149Glu
XM_005245821.3:c.703A>G	XP_005245878.1:p.Lys235Glu
XM_011541167.3:c.445A>G	XP_011539469.1:p.Lys149Glu
XM_017000905.2:c.775A>G	XP_016856394.1:p.Lys259Glu
NM_000147.5:c.1078A>G MANE Select	NP_000138.2:p.Lys360Glu
NR_174379.1:n.1256A>G
NR_174380.1:n.1305A>G
NR_174381.1:n.1144A>G
NR_174382.1:n.1541A>G