Canonical Allele Identifier: CA686308

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846067T>G , CM000663.2:g.23846067T>G	GRCh38
NC_000001.10:g.24172557T>G , CM000663.1:g.24172557T>G	GRCh37
NC_000001.9:g.24045144T>G	NCBI36
NG_013346.1:g.27303A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1260+7A>C MANE Select	NP_000138.2:n.1260+7A>C
ENST00000374479.4:c.1260+7A>C MANE Select	ENSP00000363603.3:n.1260+7A>C
NM_000147.4:c.1260+7A>C	NP_000138.2:n.1260+7A>C
NR_174379.1:n.1438+7A>C
NR_174380.1:n.1487+7A>C
NR_174381.1:n.1326+7A>C
NR_174382.1:n.1723+7A>C
ENST00000374479.3:c.1260+7A>C	ENSP00000363603.3:n.1260+7A>C
XM_005245821.1:c.885+7A>C	XP_005245878.1:n.885+7A>C
XM_005245821.3:c.885+7A>C	XP_005245878.1:n.885+7A>C
XM_011541167.1:c.627+7A>C	XP_011539469.1:n.627+7A>C
XM_011541167.3:c.627+7A>C	XP_011539469.1:n.627+7A>C
XM_017000905.2:c.957+7A>C	XP_016856394.1:n.957+7A>C