Canonical Allele Identifier: CA416691138

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639660177
• gnomAD v4: 1-23867987-G-A
• MyVariant Identifiers: chr1:g.24194477G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23867987G>A , CM000663.2:g.23867987G>A	GRCh38
NC_000001.10:g.24194477G>A , CM000663.1:g.24194477G>A	GRCh37
NC_000001.9:g.24067064G>A	NCBI36
NG_013346.1:g.5383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.300C>T MANE Select	ENSP00000363603.3:p.Gly100=
ENST00000374479.3:c.300C>T	ENSP00000363603.3:p.Gly100=
NM_000147.4:c.300C>T	NP_000138.2:p.Gly100=
XM_005245821.1:c.-250C>T	XP_005245878.1:n.-250C>T
XM_005245821.3:c.-250C>T	XP_005245878.1:n.-250C>T
NM_000147.5:c.300C>T MANE Select	NP_000138.2:p.Gly100=
NR_174379.1:n.304C>T
NR_174380.1:n.304C>T
NR_174381.1:n.304C>T
NR_174382.1:n.304C>T