Canonical Allele Identifier: CA416691302

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23868212-G-T
• MyVariant Identifiers: chr1:g.24194702G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868212G>T , CM000663.2:g.23868212G>T	GRCh38
NC_000001.10:g.24194702G>T , CM000663.1:g.24194702G>T	GRCh37
NC_000001.9:g.24067289G>T	NCBI36
NG_013346.1:g.5158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.75C>A MANE Select	ENSP00000363603.3:p.Ala25=
ENST00000374479.3:c.75C>A	ENSP00000363603.3:p.Ala25=
NM_000147.4:c.75C>A	NP_000138.2:p.Ala25=
XM_005245821.1:c.-475C>A	XP_005245878.1:n.-475C>A
XM_005245821.3:c.-475C>A	XP_005245878.1:n.-475C>A
NM_000147.5:c.75C>A MANE Select	NP_000138.2:p.Ala25=
NR_174379.1:n.79C>A
NR_174380.1:n.79C>A
NR_174381.1:n.79C>A
NR_174382.1:n.79C>A