Canonical Allele Identifier: CA2644085198
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23865418-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865418A>T , CM000663.2:g.23865418A>T GRCh38
NC_000001.10:g.24191908A>T , CM000663.1:g.24191908A>T GRCh37
NC_000001.9:g.24064495A>T NCBI36
NG_013346.1:g.7952T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.524+73T>A MANE Select ENSP00000363603.3:n.524+73T>A
ENST00000374479.3:c.524+73T>A ENSP00000363603.3:n.524+73T>A
NM_000147.4:c.524+73T>A NP_000138.2:n.524+73T>A
XM_005245821.1:c.149+73T>A XP_005245878.1:n.149+73T>A
XM_011541167.1:c.-110+73T>A XP_011539469.1:n.-110+73T>A
XM_005245821.3:c.149+73T>A XP_005245878.1:n.149+73T>A
XM_011541167.3:c.-110+73T>A XP_011539469.1:n.-110+73T>A
XM_017000905.2:c.221+73T>A XP_016856394.1:n.221+73T>A
NM_000147.5:c.524+73T>A MANE Select NP_000138.2:n.524+73T>A
NR_174379.1:n.702+73T>A
NR_174380.1:n.751+73T>A
NR_174381.1:n.590+73T>A
NR_174382.1:n.987+73T>A