Canonical Allele Identifier: CA339008888
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867955-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867955G>T , CM000663.2:g.23867955G>T GRCh38
NC_000001.10:g.24194445G>T , CM000663.1:g.24194445G>T GRCh37
NC_000001.9:g.24067032G>T NCBI36
NG_013346.1:g.5415C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.332C>A MANE Select ENSP00000363603.3:p.Thr111Asn
ENST00000374479.3:c.332C>A ENSP00000363603.3:p.Thr111Asn
NM_000147.4:c.332C>A NP_000138.2:p.Thr111Asn
XM_005245821.1:c.-218C>A XP_005245878.1:n.-218C>A
XM_005245821.3:c.-218C>A XP_005245878.1:n.-218C>A
NM_000147.5:c.332C>A MANE Select NP_000138.2:p.Thr111Asn
NR_174379.1:n.336C>A
NR_174380.1:n.336C>A
NR_174381.1:n.336C>A
NR_174382.1:n.336C>A