Canonical Allele Identifier: CA416626755

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848663-G-A
• MyVariant Identifiers: chr1:g.24175153G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848663G>A , CM000663.2:g.23848663G>A	GRCh38
NC_000001.10:g.24175153G>A , CM000663.1:g.24175153G>A	GRCh37
NC_000001.9:g.24047740G>A	NCBI36
NG_013346.1:g.24707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1146C>T MANE Select	ENSP00000363603.3:p.Asn382=
ENST00000374479.3:c.1146C>T	ENSP00000363603.3:p.Asn382=
NM_000147.4:c.1146C>T	NP_000138.2:p.Asn382=
XM_005245821.1:c.771C>T	XP_005245878.1:p.Asn257=
XM_011541167.1:c.513C>T	XP_011539469.1:p.Asn171=
XM_005245821.3:c.771C>T	XP_005245878.1:p.Asn257=
XM_011541167.3:c.513C>T	XP_011539469.1:p.Asn171=
XM_017000905.2:c.843C>T	XP_016856394.1:p.Asn281=
NM_000147.5:c.1146C>T MANE Select	NP_000138.2:p.Asn382=
NR_174379.1:n.1324C>T
NR_174380.1:n.1373C>T
NR_174381.1:n.1212C>T
NR_174382.1:n.1609C>T