Canonical Allele Identifier: CA339036628

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175259A>T (hg19) ; chr1:g.23848769A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848769A>T , CM000663.2:g.23848769A>T	GRCh38
NC_000001.10:g.24175259A>T , CM000663.1:g.24175259A>T	GRCh37
NC_000001.9:g.24047846A>T	NCBI36
NG_013346.1:g.24601T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1040T>A MANE Select	ENSP00000363603.3:p.Ile347Asn
ENST00000374479.3:c.1040T>A	ENSP00000363603.3:p.Ile347Asn
NM_000147.4:c.1040T>A	NP_000138.2:p.Ile347Asn
XM_005245821.1:c.665T>A	XP_005245878.1:p.Ile222Asn
XM_011541167.1:c.407T>A	XP_011539469.1:p.Ile136Asn
XM_005245821.3:c.665T>A	XP_005245878.1:p.Ile222Asn
XM_011541167.3:c.407T>A	XP_011539469.1:p.Ile136Asn
XM_017000905.2:c.737T>A	XP_016856394.1:p.Ile246Asn
NM_000147.5:c.1040T>A MANE Select	NP_000138.2:p.Ile347Asn
NR_174379.1:n.1218T>A
NR_174380.1:n.1267T>A
NR_174381.1:n.1106T>A
NR_174382.1:n.1503T>A