Canonical Allele Identifier: CA339008603
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23867908C>T , CM000663.2:g.23867908C>T GRCh38
NC_000001.10:g.24194398C>T , CM000663.1:g.24194398C>T GRCh37
NC_000001.9:g.24066985C>T NCBI36
NG_013346.1:g.5462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.379G>A MANE Select ENSP00000363603.3:p.Ala127Thr
ENST00000374479.3:c.379G>A ENSP00000363603.3:p.Ala127Thr
NM_000147.4:c.379G>A NP_000138.2:p.Ala127Thr
XM_005245821.1:c.-171G>A XP_005245878.1:n.-171G>A
XM_005245821.3:c.-171G>A XP_005245878.1:n.-171G>A
NM_000147.5:c.379G>A MANE Select NP_000138.2:p.Ala127Thr
NR_174379.1:n.383G>A
NR_174380.1:n.383G>A
NR_174381.1:n.383G>A
NR_174382.1:n.383G>A