Canonical Allele Identifier: CA416626780

Gene: FUCA1

Linked Data

• dbSNP Id: rs1285533466
• gnomAD v2: 1-24175186-G-A
• gnomAD v3: 1-23848696-G-A
• gnomAD v4: 1-23848696-G-A
• MyVariant Identifiers: chr1:g.24175186G>A (hg19) ; chr1:g.23848696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848696G>A , CM000663.2:g.23848696G>A	GRCh38
NC_000001.10:g.24175186G>A , CM000663.1:g.24175186G>A	GRCh37
NC_000001.9:g.24047773G>A	NCBI36
NG_013346.1:g.24674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1113C>T MANE Select	ENSP00000363603.3:p.Ala371=
ENST00000374479.3:c.1113C>T	ENSP00000363603.3:p.Ala371=
NM_000147.4:c.1113C>T	NP_000138.2:p.Ala371=
XM_005245821.1:c.738C>T	XP_005245878.1:p.Ala246=
XM_011541167.1:c.480C>T	XP_011539469.1:p.Ala160=
XM_005245821.3:c.738C>T	XP_005245878.1:p.Ala246=
XM_011541167.3:c.480C>T	XP_011539469.1:p.Ala160=
XM_017000905.2:c.810C>T	XP_016856394.1:p.Ala270=
NM_000147.5:c.1113C>T MANE Select	NP_000138.2:p.Ala371=
NR_174379.1:n.1291C>T
NR_174380.1:n.1340C>T
NR_174381.1:n.1179C>T
NR_174382.1:n.1576C>T