Canonical Allele Identifier: CA339036595

Gene: FUCA1

Linked Data

• dbSNP Id: rs1380905344
• gnomAD v2: 1-24175251-T-A
• gnomAD v4: 1-23848761-T-A
• MyVariant Identifiers: chr1:g.24175251T>A (hg19) ; chr1:g.23848761T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848761T>A , CM000663.2:g.23848761T>A	GRCh38
NC_000001.10:g.24175251T>A , CM000663.1:g.24175251T>A	GRCh37
NC_000001.9:g.24047838T>A	NCBI36
NG_013346.1:g.24609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1048A>T MANE Select	ENSP00000363603.3:p.Ile350Phe
ENST00000374479.3:c.1048A>T	ENSP00000363603.3:p.Ile350Phe
NM_000147.4:c.1048A>T	NP_000138.2:p.Ile350Phe
XM_005245821.1:c.673A>T	XP_005245878.1:p.Ile225Phe
XM_011541167.1:c.415A>T	XP_011539469.1:p.Ile139Phe
XM_005245821.3:c.673A>T	XP_005245878.1:p.Ile225Phe
XM_011541167.3:c.415A>T	XP_011539469.1:p.Ile139Phe
XM_017000905.2:c.745A>T	XP_016856394.1:p.Ile249Phe
NM_000147.5:c.1048A>T MANE Select	NP_000138.2:p.Ile350Phe
NR_174379.1:n.1226A>T
NR_174380.1:n.1275A>T
NR_174381.1:n.1114A>T
NR_174382.1:n.1511A>T