Canonical Allele Identifier: CA2644083823

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848607-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848607G>A , CM000663.2:g.23848607G>A	GRCh38
NC_000001.10:g.24175097G>A , CM000663.1:g.24175097G>A	GRCh37
NC_000001.9:g.24047684G>A	NCBI36
NG_013346.1:g.24763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1160+42C>T MANE Select	ENSP00000363603.3:n.1160+42C>T
ENST00000374479.3:c.1160+42C>T	ENSP00000363603.3:n.1160+42C>T
NM_000147.4:c.1160+42C>T	NP_000138.2:n.1160+42C>T
XM_005245821.1:c.785+42C>T	XP_005245878.1:n.785+42C>T
XM_011541167.1:c.527+42C>T	XP_011539469.1:n.527+42C>T
XM_005245821.3:c.785+42C>T	XP_005245878.1:n.785+42C>T
XM_011541167.3:c.527+42C>T	XP_011539469.1:n.527+42C>T
XM_017000905.2:c.857+42C>T	XP_016856394.1:n.857+42C>T
NM_000147.5:c.1160+42C>T MANE Select	NP_000138.2:n.1160+42C>T
NR_174379.1:n.1338+42C>T
NR_174380.1:n.1387+42C>T
NR_174381.1:n.1226+42C>T
NR_174382.1:n.1623+42C>T