Canonical Allele Identifier: CA416626843

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848762-G-T
• MyVariant Identifiers: chr1:g.24175252G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848762G>T , CM000663.2:g.23848762G>T	GRCh38
NC_000001.10:g.24175252G>T , CM000663.1:g.24175252G>T	GRCh37
NC_000001.9:g.24047839G>T	NCBI36
NG_013346.1:g.24608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1047C>A MANE Select	ENSP00000363603.3:p.Pro349=
ENST00000374479.3:c.1047C>A	ENSP00000363603.3:p.Pro349=
NM_000147.4:c.1047C>A	NP_000138.2:p.Pro349=
XM_005245821.1:c.672C>A	XP_005245878.1:p.Pro224=
XM_011541167.1:c.414C>A	XP_011539469.1:p.Pro138=
XM_005245821.3:c.672C>A	XP_005245878.1:p.Pro224=
XM_011541167.3:c.414C>A	XP_011539469.1:p.Pro138=
XM_017000905.2:c.744C>A	XP_016856394.1:p.Pro248=
NM_000147.5:c.1047C>A MANE Select	NP_000138.2:p.Pro349=
NR_174379.1:n.1225C>A
NR_174380.1:n.1274C>A
NR_174381.1:n.1113C>A
NR_174382.1:n.1510C>A