Canonical Allele Identifier: CA339038792

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23854562T>G , CM000663.2:g.23854562T>G	GRCh38
NC_000001.10:g.24181052T>G , CM000663.1:g.24181052T>G	GRCh37
NC_000001.9:g.24053639T>G	NCBI36
NG_013346.1:g.18808A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.769-2A>C MANE Select	NP_000138.2:n.769-2A>C
ENST00000374479.4:c.769-2A>C MANE Select	ENSP00000363603.3:n.769-2A>C
NM_000147.4:c.769-2A>C	NP_000138.2:n.769-2A>C
NR_174379.1:n.947-2A>C
NR_174380.1:n.996-2A>C
NR_174381.1:n.835-2A>C
NR_174382.1:n.1232-2A>C
ENST00000374479.3:c.769-2A>C	ENSP00000363603.3:n.769-2A>C
XM_005245821.1:c.394-2A>C	XP_005245878.1:n.394-2A>C
XM_005245821.3:c.394-2A>C	XP_005245878.1:n.394-2A>C
XM_011541167.1:c.136-2A>C	XP_011539469.1:n.136-2A>C
XM_011541167.3:c.136-2A>C	XP_011539469.1:n.136-2A>C
XM_017000905.2:c.466-2A>C	XP_016856394.1:n.466-2A>C