Canonical Allele Identifier: CA1158981367

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639188688
• gnomAD v4: 1-23848589-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848589G>T , CM000663.2:g.23848589G>T	GRCh38
NC_000001.10:g.24175079G>T , CM000663.1:g.24175079G>T	GRCh37
NC_000001.9:g.24047666G>T	NCBI36
NG_013346.1:g.24781C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1160+60C>A MANE Select	ENSP00000363603.3:n.1160+60C>A
ENST00000374479.3:c.1160+60C>A	ENSP00000363603.3:n.1160+60C>A
NM_000147.4:c.1160+60C>A	NP_000138.2:n.1160+60C>A
XM_005245821.1:c.785+60C>A	XP_005245878.1:n.785+60C>A
XM_011541167.1:c.527+60C>A	XP_011539469.1:n.527+60C>A
XM_005245821.3:c.785+60C>A	XP_005245878.1:n.785+60C>A
XM_011541167.3:c.527+60C>A	XP_011539469.1:n.527+60C>A
XM_017000905.2:c.857+60C>A	XP_016856394.1:n.857+60C>A
NM_000147.5:c.1160+60C>A MANE Select	NP_000138.2:n.1160+60C>A
NR_174379.1:n.1338+60C>A
NR_174380.1:n.1387+60C>A
NR_174381.1:n.1226+60C>A
NR_174382.1:n.1623+60C>A