Canonical Allele Identifier: CA339008692
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867926-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867926C>T , CM000663.2:g.23867926C>T GRCh38
NC_000001.10:g.24194416C>T , CM000663.1:g.24194416C>T GRCh37
NC_000001.9:g.24067003C>T NCBI36
NG_013346.1:g.5444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.361G>A MANE Select ENSP00000363603.3:p.Ala121Thr
ENST00000374479.3:c.361G>A ENSP00000363603.3:p.Ala121Thr
NM_000147.4:c.361G>A NP_000138.2:p.Ala121Thr
XM_005245821.1:c.-189G>A XP_005245878.1:n.-189G>A
XM_005245821.3:c.-189G>A XP_005245878.1:n.-189G>A
NM_000147.5:c.361G>A MANE Select NP_000138.2:p.Ala121Thr
NR_174379.1:n.365G>A
NR_174380.1:n.365G>A
NR_174381.1:n.365G>A
NR_174382.1:n.365G>A