Canonical Allele Identifier: CA339036417
Gene: FUCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848733C>A , CM000663.2:g.23848733C>A GRCh38
NC_000001.10:g.24175223C>A , CM000663.1:g.24175223C>A GRCh37
NC_000001.9:g.24047810C>A NCBI36
NG_013346.1:g.24637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1076G>T MANE Select ENSP00000363603.3:p.Gly359Val
ENST00000374479.3:c.1076G>T ENSP00000363603.3:p.Gly359Val
NM_000147.4:c.1076G>T NP_000138.2:p.Gly359Val
XM_005245821.1:c.701G>T XP_005245878.1:p.Gly234Val
XM_011541167.1:c.443G>T XP_011539469.1:p.Gly148Val
XM_005245821.3:c.701G>T XP_005245878.1:p.Gly234Val
XM_011541167.3:c.443G>T XP_011539469.1:p.Gly148Val
XM_017000905.2:c.773G>T XP_016856394.1:p.Gly258Val
NM_000147.5:c.1076G>T MANE Select NP_000138.2:p.Gly359Val
NR_174379.1:n.1254G>T
NR_174380.1:n.1303G>T
NR_174381.1:n.1142G>T
NR_174382.1:n.1539G>T