Canonical Allele Identifier: CA339008759
Gene: FUCA1 HGNC NCBI

Linked Data

gnomAD v4: 1-23867938-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867938G>A , CM000663.2:g.23867938G>A GRCh38
NC_000001.10:g.24194428G>A , CM000663.1:g.24194428G>A GRCh37
NC_000001.9:g.24067015G>A NCBI36
NG_013346.1:g.5432C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.349C>T MANE Select ENSP00000363603.3:p.Pro117Ser
ENST00000374479.3:c.349C>T ENSP00000363603.3:p.Pro117Ser
NM_000147.4:c.349C>T NP_000138.2:p.Pro117Ser
XM_005245821.1:c.-201C>T XP_005245878.1:n.-201C>T
XM_005245821.3:c.-201C>T XP_005245878.1:n.-201C>T
NM_000147.5:c.349C>T MANE Select NP_000138.2:p.Pro117Ser
NR_174379.1:n.353C>T
NR_174380.1:n.353C>T
NR_174381.1:n.353C>T
NR_174382.1:n.353C>T