Canonical Allele Identifier: CA339007291

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191985T>C (hg19) ; chr1:g.23865495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865495T>C , CM000663.2:g.23865495T>C	GRCh38
NC_000001.10:g.24191985T>C , CM000663.1:g.24191985T>C	GRCh37
NC_000001.9:g.24064572T>C	NCBI36
NG_013346.1:g.7875A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.520A>G MANE Select	ENSP00000363603.3:p.Lys174Glu
ENST00000374479.3:c.520A>G	ENSP00000363603.3:p.Lys174Glu
NM_000147.4:c.520A>G	NP_000138.2:p.Lys174Glu
XM_005245821.1:c.145A>G	XP_005245878.1:p.Lys49Glu
XM_011541167.1:c.-114A>G	XP_011539469.1:n.-114A>G
XM_005245821.3:c.145A>G	XP_005245878.1:p.Lys49Glu
XM_011541167.3:c.-114A>G	XP_011539469.1:n.-114A>G
XM_017000905.2:c.217A>G	XP_016856394.1:p.Lys73Glu
NM_000147.5:c.520A>G MANE Select	NP_000138.2:p.Lys174Glu
NR_174379.1:n.698A>G
NR_174380.1:n.747A>G
NR_174381.1:n.586A>G
NR_174382.1:n.983A>G