Canonical Allele Identifier: CA10834295
Community Standard Title: NM_000147.5(FUCA1):c.1161-219G>A
Gene: FUCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23846392C>T , CM000663.2:g.23846392C>T GRCh38
NC_000001.10:g.24172882C>T , CM000663.1:g.24172882C>T GRCh37
NC_000001.9:g.24045469C>T NCBI36
NG_013346.1:g.26978G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000147.5:c.1161-219G>A MANE Select NP_000138.2:n.1161-219G>A
ENST00000374479.4:c.1161-219G>A MANE Select ENSP00000363603.3:n.1161-219G>A
NM_000147.4:c.1161-219G>A NP_000138.2:n.1161-219G>A
NR_174379.1:n.1339-219G>A
NR_174380.1:n.1388-219G>A
NR_174381.1:n.1227-219G>A
NR_174382.1:n.1624-219G>A
ENST00000374479.3:c.1161-219G>A ENSP00000363603.3:n.1161-219G>A
XM_005245821.1:c.786-219G>A XP_005245878.1:n.786-219G>A
XM_005245821.3:c.786-219G>A XP_005245878.1:n.786-219G>A
XM_011541167.1:c.528-219G>A XP_011539469.1:n.528-219G>A
XM_011541167.3:c.528-219G>A XP_011539469.1:n.528-219G>A
XM_017000905.2:c.858-219G>A XP_016856394.1:n.858-219G>A