Canonical Allele Identifier: CA686597
Gene: FUCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1445107
dbSNP Id: rs138378067
gnomAD v2: 1-24194517-G-A
gnomAD v3: 1-23868027-G-A
gnomAD v4: 1-23868027-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23868027G>A , CM000663.2:g.23868027G>A GRCh38
NC_000001.10:g.24194517G>A , CM000663.1:g.24194517G>A GRCh37
NC_000001.9:g.24067104G>A NCBI36
NG_013346.1:g.5343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.260C>T MANE Select ENSP00000363603.3:p.Pro87Leu
ENST00000374479.3:c.260C>T ENSP00000363603.3:p.Pro87Leu
NM_000147.4:c.260C>T NP_000138.2:p.Pro87Leu
XM_005245821.1:c.-290C>T XP_005245878.1:n.-290C>T
XM_005245821.3:c.-290C>T XP_005245878.1:n.-290C>T
NM_000147.5:c.260C>T MANE Select NP_000138.2:p.Pro87Leu
NR_174379.1:n.264C>T
NR_174380.1:n.264C>T
NR_174381.1:n.264C>T
NR_174382.1:n.264C>T