Canonical Allele Identifier: CA339010115

Gene: FUCA1

Linked Data

• dbSNP Id: rs1338987822
• gnomAD v2: 1-24194614-C-T
• gnomAD v4: 1-23868124-C-T
• MyVariant Identifiers: chr1:g.24194614C>T (hg19) ; chr1:g.23868124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868124C>T , CM000663.2:g.23868124C>T	GRCh38
NC_000001.10:g.24194614C>T , CM000663.1:g.24194614C>T	GRCh37
NC_000001.9:g.24067201C>T	NCBI36
NG_013346.1:g.5246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.163G>A MANE Select	ENSP00000363603.3:p.Glu55Lys
ENST00000374479.3:c.163G>A	ENSP00000363603.3:p.Glu55Lys
NM_000147.4:c.163G>A	NP_000138.2:p.Glu55Lys
XM_005245821.1:c.-387G>A	XP_005245878.1:n.-387G>A
XM_005245821.3:c.-387G>A	XP_005245878.1:n.-387G>A
NM_000147.5:c.163G>A MANE Select	NP_000138.2:p.Glu55Lys
NR_174379.1:n.167G>A
NR_174380.1:n.167G>A
NR_174381.1:n.167G>A
NR_174382.1:n.167G>A