Canonical Allele Identifier: CA2644083825

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848611-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848611C>G , CM000663.2:g.23848611C>G	GRCh38
NC_000001.10:g.24175101C>G , CM000663.1:g.24175101C>G	GRCh37
NC_000001.9:g.24047688C>G	NCBI36
NG_013346.1:g.24759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+38G>C MANE Select	ENSP00000363603.3:n.1160+38G>C
ENST00000374479.3:c.1160+38G>C	ENSP00000363603.3:n.1160+38G>C
NM_000147.4:c.1160+38G>C	NP_000138.2:n.1160+38G>C
XM_005245821.1:c.785+38G>C	XP_005245878.1:n.785+38G>C
XM_011541167.1:c.527+38G>C	XP_011539469.1:n.527+38G>C
XM_005245821.3:c.785+38G>C	XP_005245878.1:n.785+38G>C
XM_011541167.3:c.527+38G>C	XP_011539469.1:n.527+38G>C
XM_017000905.2:c.857+38G>C	XP_016856394.1:n.857+38G>C
NM_000147.5:c.1160+38G>C MANE Select	NP_000138.2:n.1160+38G>C
NR_174379.1:n.1338+38G>C
NR_174380.1:n.1387+38G>C
NR_174381.1:n.1226+38G>C
NR_174382.1:n.1623+38G>C