Canonical Allele Identifier: CA1139656003

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23863129C>G , CM000663.2:g.23863129C>G	GRCh38
NC_000001.10:g.24189619C>G , CM000663.1:g.24189619C>G	GRCh37
NC_000001.9:g.24062206C>G	NCBI36
NG_013346.1:g.10241G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.662+5G>C MANE Select	NP_000138.2:n.662+5G>C
ENST00000374479.4:c.662+5G>C MANE Select	ENSP00000363603.3:n.662+5G>C
NM_000147.4:c.662+5G>C	NP_000138.2:n.662+5G>C
NR_174379.1:n.840+5G>C
NR_174380.1:n.889+5G>C
NR_174381.1:n.728+5G>C
NR_174382.1:n.1125+5G>C
ENST00000374479.3:c.662+5G>C	ENSP00000363603.3:n.662+5G>C
XM_005245821.1:c.287+5G>C	XP_005245878.1:n.287+5G>C
XM_005245821.3:c.287+5G>C	XP_005245878.1:n.287+5G>C
XM_011541167.1:c.29+5G>C	XP_011539469.1:n.29+5G>C
XM_011541167.3:c.29+5G>C	XP_011539469.1:n.29+5G>C
XM_017000905.2:c.359+5G>C	XP_016856394.1:n.359+5G>C